julie riggs parents guide cfp

Congenital Facial Paralysis 1

Running Head: CONGENITAL FACIAL PARALYSIS

Congenital Facial Paralysis: A Parent’s Guide

Julie Riggs

The University of Oklahoma

Dr. Glenda Ochsner

Study in Depth

April 26, 2004


Abstract

Your smile is your greeting to the world on the first impression of your face.

Children born without the ability to form a smile have a barrier to communicating

their friendly greeting to the world, and are often met with curiosity, fear, or

ridicule instead of acceptance. Understanding a child’s condition is the first step

in planning for care and treatment options. Congenital facial paralysis is

caused by damage, malformation, or agenesis (absence) of the seventh cranial

nerve. This publication will discuss the structure and development of the seventh

cranial nerve, the causes of CFP and related conditions, and corrective surgical

techniques. Also included are photographs of children of different ages with the

condition, testimonies from parents, and information on the social, psychological,

and emotional impact of this condition on children and their families. A list of

organizations and pediatric neurosurgeons specializing in this condition is

attached.


Table of Contents

Introduction: Your New Baby and CFP………………………………………. 4

Congenital Facial Paralysis……………………………………..…………..……. 6

Embryology and Facial Nerve Development…………………….…..…….. 8

Causes of CFP…………………………………………………………......………. 11

Related Conditions…………………………………………………….….………. 14

Bells Palsy…………………………………………………….……..……… 15

Moebius Syndrome………………………………………………………. 16

Hemifacial Microsomia……………………………………..………….. 17

Goldenhar’s Syndrome………………………………..…………..…… 18

Surgical Options………………………………………………………..…….….... 19

Up Close: Kids Living with CFP…………………………………….………….. 23

Resources…………………………………………………………………..….…….. 27

Glossary…………………………………………………………..……………….….. 29

References…………………………………………………….…………..……….... 30

Images………………………………………………………………….….………….. 32


Introduction: Your New Baby and CFP

When expecting a new baby, parents look forward to “ten little fingers,

ten little toes, two little eyes and a button nose.” The complex process of fetal

development and birth involves an infinitesimal number of steps, and one tiny

change can affect the development of the whole baby. In the case of congenital

facial paralysis (CFP), a problem in the first few weeks of development will result

in a lack of facial movement. The effects of CFP are often recognized as the

newborn lets out a first cry, with a facial appearance similar to the effects of a

stroke. On the affected side, the mouth droops down and the eye remains open.

Medical attendants will usually evaluate the newborn immediately for stroke by

checking for strength of movement and reflexes in the arm and leg on the

affected side. When that appears normal, congenital facial paralysis is suspected.

Most cases are the result of birth trauma, caused by pressure on the infant’s

head during delivery, or even while still in the womb, causing swelling that

impedes the function of the facial nerve. The vast majority of birth trauma CFP

will resolve within the first few weeks of life, and the child will have normal facial

function. In a few cases of birth trauma CFP, the nerve damage is permanent

and the function of the affected facial nerve never recovers. When there is no

evidence of birth trauma, and especially if other congenital defects are present,

the CFP is probably the result of a developmental defect (Lundstrom, 2002).

For some parents, the newborn’s condition is recognized immediately and

the happy experience of birth is clouded by worry and concern. For other

parents, the condition goes unrecognized until the baby’s first smiles begin to


appear and the lack of facial movement becomes more obvious. The process of

evaluation and diagnosis can be a frustrating time. MRI and other imaging tests

are available, but often of little use in visualizing the tiny facial nerve. Many

months of watching and waiting must pass before a definite diagnosis is given.

Some parents experience guilt and question their actions or behaviors that might

have caused their child’s birth defect. Spending time learning about the causes

and origins of CFP helps parents to accept the random chance that gave their

newborn this condition. Understanding CFP prepares the family to make

educated choices about treatment and corrective surgery.

In addition to the emotions experienced by new parents of children with

CFP, learning to interpret the baby’s emotions can be challenging. All new

parents have trouble understanding a newborn’s cries: Is she hungry? Or is she

tired? Does he want to be held? Have his diaper changed? The universal

nonverbal communication through smiles and frowns, grimaces and smirks, is

muddled in a child with CFP. Parents often find themselves asking, “was that a

smile and a giggle?” ”Or a frown and a grumble?” After a few months of daily

gazing at your beautiful baby’s unique face, you will begin to recognize her

unique smile and know when she is happy. By the end of the first year, you

won’t even recognize his CFP when he smiles at you.

As your baby’s appearance becomes normal to your eyes, you may begin

to question if there is improvement. Family and friends might insist that the

condition is getting better, but actually their mind is becoming accustomed to

your baby’s facial differences and recognizing them as normal. Taking


photographs at regular intervals will help you keep an objective record of your

child’s condition. Comparing the three-month-old smile with the 18-month-old

smile will let you objectively decide if any change has occurred. Another helpful

technique is to hold your child and look into a mirror together. By looking at your

child’s reflection, the CFP appears on the opposite side from what your mind is

accustomed to seeing which will force your optical process to really look at the

CFP instead of recognizing the familiar image.

Congenital Facial Paralysis

Congenital facial paralysis (CFP) is a condition characterized by the

absence, malformation, or malfunction of the seventh cranial nerve, which

impairs the ability to smile and blink on the affected side. The face can appear

almost symmetrical at rest, but with emotive movement the condition is more

visible. The baby with CFP cannot smile or squint on the affected side of the

face. A crying face is even more illustrative of the condition’s affects. Furrowing

the eyebrow and squinting the eye are absent, and the mouth appears to droop

on the affected side. The fold or “laugh line” running from the side of the nose to

the corner of the mouth may appear smooth and flat. The inability to flare the

affected nostril causes the nasal cavity to appear smaller on the affected side.

Feeding problems are possible when lack of lip control on the affected

side interferes with nursing or suckling. As long as there are no tongue-control or

swallowing problems caused by more serious syndromes, most babies with CFP

will easily overcome early feeding difficulties. A patient parent helping the baby


to properly position her lips on the breast or bottle can quickly resolve these

issues. When the child transitions to solid food, it is possible for food to be

trapped in the affected cheek so proper dental hygiene is important to maintain

healthy teeth and gums.

Problems with eye closure during sleep make the eye susceptible to injury

from dryness or abrasions. The amount of eye closure a child with CFP has

during sleep can vary: some children require eye patches and eye drops to

protect the eye and maintain lubrication. Regular optical exams are important to

preserve vision and guard against long term damage. Many older children with

CFP will require prescription glasses to correct eyesight on the affected side,

which might be compromised by damage due to cornea dryness and abrasions,

or weakness due to cranial nerve abnormalities.

Embryology and Facial Nerve Development

In the quest to understand what causes CFP, it is

necessary to understand how your child grew as an

embryo. During the fourth week of life, the tiny embryo

has developed four folds or arches in the area of the

developing head. These are called branchial arches,

using the term branchia, which

means “gill” in Greek, because

these folds look like the gills of

Human fetus at the 27th day First Branchial Arch

Second Branchial Arch


a fish. Branchial arches are also referred to as pharyngeal arches in some

medical literature. From the second branchial arch are formed the muscles of

facial expression and the seventh cranial nerve (Cranial VII), called the facial

nerve. In the sixth week of life, the external ear begins to form from the first and

second branchial arches (Mandell, 2000).

At any time during this complex developmental process, a genetic

mutation, an error in cell division, a vascular disruption

or bleed could affect the growth of the facial structures

and the facial nerve. Malformations of the external ear are often accompanied by

facial nerve dysfunction (Backous, 1991) because if the ear is not developing in

the customary manner or location it could disrupt the path or growth of the facial

nerve.

Human fetus at the 29th day Seventh Cranial nerve VII


The image below highlights the first and second brachial (or pharyngeal)

arches at 35 days of gestation.

The final image shows the developing structures of the external ear,

the

which initially grows directly below the rudimentary eye. As the embryo

develops, the ear moves upward and outward to take position on the side of

head. Cranial VII develops in the tissue below the evolving external ear, and as

the ear moves and grows, so must the facial nerve. This illustrates how

abnormalities in the development of the external ear are often accompanied by

abnormalities in the function of the facial nerve (Lundstrom, 2002). In this

image, the rudimentary eye, the two nostrils, and the opening of the mouth can

also be seen.

All images in this section are from Embryo Images Online at HUhttp://www.med.unc.edu/embryo_images/UH.


A review of these images of embryo development provides an illustration

of the microscopic changes happening at the time your child’s facial nerve was

affected. It may never be possible to isolate the exact cause of your child’s CFP,

but seeing the process of development may help you accept the outcome.

“Approximately 7000 neuron cell bodies make up the facial nerve, each of which innervates approximately 25 muscle fibers. The axons are surrounded by myelin, produced by the Schwann cells surrounding the axons. Three membranes comprise the nerve sheath. The epineurium is the outer covering, composed of loose areolar tissue, which separates the fascicles and holds them together. The perineureum is the next more inner layer. This is a dense layer of cells that are metabolically active and function as a diffusion barrier. The perineurium provides considerable strength to the nerve sheath. The individual nerve fibers are then each surrounded by endoneurium.” (Byrne 2003)

This description of the structure of the facial nerve shows the complexity

of this tiny structure: seven thousand nerve cells connecting to 175,000 muscle

fibers. In CFP, somewhere in this complex structure an error has occurred. It

may be impossible to isolate the “where”, “why”, or “how” of the problem.

One interesting feature of this description is the mention of “Schwann

cells”. These particular nerve cells are involved in the regeneration of nerve

tissue, and are a focus for research into the restoration of function in damaged

peripheral nerves including the facial nerve (Hadlock, 1998). In the Hadlock

experiment (1998), researchers used “the unique chemical and physical

properties of synthetic polymers in conjunction with the biological properties of

Schwann cells to create a superior prosthesis for the repair of multiply branched

peripheral nerves, such as the facial nerve.” Someday these bioengineering

techniques may correct CFP without nerve graft and muscle transplantation.


Causes of CFP

In most CFP cases, it is not possible to identify conclusively the reason

why the condition occurred. There are many known causes of CFP, and probably

many more unknown causes, but identifying the particular origin of a certain

child’s condition is difficult.

Developmental

Genetic defect: There are documented cases of CFP and other branchial

arch syndromes occurring in successive generations of certain families. This

signifies an inherited genetic defect passed from parent to child. Genetic

counselors often examine the parents of an affected child for undiagnosed signs

of a branchial arch anomaly, such as inconsequential ear tags or pits, malformed

external ears, or facial asymmetry that might not be severe enough to be

noticeable (Reading, 2004).

Disruption of blood flow: CFP and other craniofacial defects are often

caused by a disruption of normal blood flow to the first and second branchial

arches in the early weeks of fetal development (Backous, 1991). A malformation

of the arteries or blood vessels in the developing fetus might deprive the area of

the growing facial nerve of blood flow, resulting in deformity or agenesis

(absence) of the nerve. Interesting proof of this theory has surfaced with the use

of the drug misoprostol (a component of the abortion drug RU-486) to chemically

induce early term abortions. The drug causes bleeding which normally results in

termination of a pregnancy, but in cases where the fetus was not aborted up to

half of the children are born with Moebius Syndrome, the bilateral congenital


facial paralysis branchial arch anomaly (South Africa Dept of Health, 2001;

Lundstrom, 2002).

Chemical exposure: In a world full of industrial chemicals, pesticides, and

prescription drugs, it is impossible to isolate a developing embryo from the

affects of chemical exposure. The mother’s exposure to chemicals could cause

CFP. Even a father’s chemical exposure before conception can affect the unborn

child. After the first Gulf War, a significant increase in birth defects among the

children of combat veterans was reported. The branchial arch syndrome known

as Goldenhar’s Syndrome was particularly isolated for study (GulfLink, 1997).

Although 14.7 Goldenhar cases per 100,000 births were reported, and the

control group had a rate of 4.8 per 100,000, the report stated the number of

cases was not statistically significant. Perhaps if all branchial arch anomalies had

been included, and not only those diagnosed with Goldenhar, the data may have

been more conclusive. Also, the study only included children born in military

hospitals, excluding those born to combat veterans in civilian hospitals or to

those who had left the military.

Trauma/Birth Injury

Injuries can occur during the birth process that result in congenital facial

paralysis. The position of the baby in the uterus or pressures on the baby’s head

during delivery may cause CFP. Pressure on the area of the developing cranial

nerve whether from the baby’s shoulder or hand, or the mother’s pelvis or other

body structure, has been theorized to cause CFP. The pressure of the

mother’s sacrum, or tailbone, during delivery may cause CFP, particularly if the


baby is overly large or presenting in the wrong direction: “Intrauterine trauma

can occur from pressure on the infant’s face by the sacral prominence during the

birthing process” (Lundstrom, 2002). Babies normally deliver face-down, and a

“sunny-side-up” baby (born looking at the ceiling) experiences increased

pressure on the head from the mother’s pelvic bones, and the mother

experiences the extreme discomfort of back labor. In some difficult deliveries,

the obstetrician must resort to the use of forceps or vacuum extraction to

deliver the baby. The pressure of these instruments on the infant’s head may

result in CFP, although birth trauma of this type is usually temporary (Lundstrom,

2002).

Other

Other accidents, illnesses, or diseases may result in facial nerve paralysis,

such as:

• Tumor: a benign growth or cancerous malignancy on the face,

head, or neck that damages the facial nerve. Surgical removal of

the tumor is often the cause of facial nerve paralysis.

• Accidental injury: a simple fall, a broken bone, a gunshot wound,

injuries from a car accident – all could result in facial nerve

paralysis.

• Bells Palsy: an illness believed to be caused by a virus that results

in extreme swelling that temporarily paralyzes the facial nerve.

Occasionally, some Bells Palsy sufferers experience permanent

facial nerve paralysis. (see description in Related Conditions)


• Stroke: a vascular crisis in the brain, like a heart attack in the

head, a stroke often causes paralysis along one side of the body.

Depending on the severity of the attack, some patients recover

fully and others experience permanent paralysis. Stroke may affect

control of the leg, arm, and hand, but the most recognizable

feature is the unilateral facial paralysis.

While these other sources of facial nerve paralysis cause the same type of facial

deficit as CFP, they are not related to the congenital condition. However, people

who experience facial nerve paralysis from these other causes do benefit from

the same facial reanimation surgeries that help children with CFP.

Related Conditions

As physicians and researchers gather more information about congenital

facial paralysis and related conditions, their definitions of disorders and

syndromes evolve. The underlying cause for most developmental CFP is a

brachial arch anomaly; therefore, all conditions that include CFP could be

collectively called Brachial Arch Syndromes. The diagnosis you hear from your

pediatrician, pediatric neurologist, or craniofacial team could be different

depending on each physician’s familiarity with the particular syndromes and their

combinations of defects. Also, each defined syndrome can vary from mild to

severe in expression. For example, a child with simple unilateral CFP could be

considered to have a mild expression of Moebius Syndrome, while a child with a

severe expression of Moebius would have bilateral CFP complicated by extreme


feeding difficulties, as well as disfigured hands or clubfoot. These two children

might receive the same diagnosis, with very different conditions.

Bells Palsy

Most people have heard of Bells Palsy and know someone who has

experienced the condition. This disease is believed to be caused by a strain of

the herpes virus and strikes children and adults for unknown reasons (Shenaq,

2001). The virus causes swelling and compresses the seventh cranial nerve,

resulting in acute facial paralysis, which usually resolves in a few days to a few

weeks. Some people experience recurring episodes of Bells Palsy, and for a few

sufferers the swelling is so severe that the seventh cranial nerve is permanently

damaged. Those with permanent facial paralysis from Bells Palsy benefit from

the same reconstructive surgeries performed on those with CFP.

Although arising from a different cause, Bells Palsy has the same affect as

CFP. For a parent trying to understand how their child with CFP experiences the

condition, listening to Bells Palsy sufferers is insightful. Many of those who

experience this sudden paralysis complain of:

• Eye irritation and constant tearing, accompanied by an

increased sensitivity to light;

• The inability to control drooling, and difficulty chewing and

moving food within the mouth;

• Embarrassment over the sagging check and crooked smile.

Many Bells Palsy sufferers experience extreme pain with the condition, and

during the recovery process nerve impulses can trigger unwanted movement and


twitching called synkinesis. Although children born with CFP don’t experience the

pain and intensity of symptoms that comes with Bells Palsy, the two conditions

appear similar to an uninformed observer. When answering casual questions

about your child’s condition, it can be helpful to relate it to Bells Palsy, which

many people understand, then explain that the condition is permanent and from

birth, not from an illness.

Moebius Syndrome

The most obvious characteristic of Moebius

Syndrome (or Mobius Syndrome) is bilateral congenital

facial paralysis, meaning CFP that affects both sides of

the face. Children born with Moebius Syndrome have

no ability to smile, limited eye movement, and a

complete lack of emotionally expressive facial

movement (Palmer, 2001). Most infants with Moebius Syndrome also have

extreme feeding difficulties as infants and many are fitted with special feeding

tubes that allow food to be put directly into their stomachs. Problems with

suckling, tongue movement, swallowing, and the aspiration of fluids into the

lungs make this extreme intervention necessary (Wynbrandt, 2000).

Child with Moebius Syndrome

Although most children with Moebius Syndrome are of normal intelligence,

a few experience mental retardation related to their condition. Hand

abnormalities and clubfoot are more common occurrences. Poland Syndrome,

which is characterized by an absence of the chest muscles, often occurs in

conjunction with Moebius, and the two are thought to be related (Gilbert, 2000).


Hemifacial Microsomia

A more severe expression of a branchial arch anomaly may result in a

condition called Hemifacial Microsomia (HFM). HFM

sometimes includes facial paralysis, but the more

predominant characteristics of the condition involve

underdevelopment of structures on the affected side of

the face. Although the condition is usually unilateral,

there are also bilateral cases. The full affects of HFM are

often not seen until the child reaches age four (Gilbert, 2000), because of the

growth of the facial bones and the slimming of the face as the chubby toddler

phase ends. Characteristics of HFM could include (Reading, 2004):

Infant with Hemifacial Microsomia

• Absence or microtia (underdevelopment) of the external ear;

• Malformation of the middle ear, with associated hearing deficit;

• Underdevelopment of the bony structures, including the upper

and lower jaw, as well as the side of the skull, the eye socket,

and the cheekbone;

• A lack of thickness in the cheek muscle and tissues;

Again, these symptoms can show a mild expression or a severe expression.

Some children with HFM have a mandible (lower jaw) that is slightly smaller on

the affected side. Other children with a more severe expression of HFM may be

missing the external ear and show a marked difference in the size of their face

on the affected side.


Treatment for the effects of HFM often includes jaw distraction, which is

the use of an implanted metal device to lengthen the jaw over a long period of

time, or reconstruction of the jaw with a bone graft from the ribs (Reading,

2004). These reconstructive procedures may be repeated at a later age to adjust

for facial growth.

Goldenhar’s Syndrome

Another branchial arch syndrome that is closely related to HFM is called

Goldenhar’s Syndrome. Like HFM, Goldenhar is usually one-sided. In addition to

ear abnormalities, two characteristic defects are predominant in Goldenhar:

A “lateral cleft” on one side of the mouth, which is essentially a mouth

opening that extends too far toward the ear on one side;

The presence of “preauricular tags” which are “small appendages or tags

of skin adjacent to the ear” that are often present of both the affected

and unaffected sides (Wynbrandt, 2000).

Eye abnormalities are also prominent in Goldenhar, including absence of the eye,

or the presence of small lesions on the surface of the eye, called “epibulbar

dermoids” (Wynbrandt, 2000). As in many branchial arch syndromes, children

with Goldenhar’s Syndrome have a higher incidence of heart and kidney

malformations, spinal defects, and other congenital problems (Gilbert, 2000).

Teenager diagnosed with Goldenhar’s Syndrome, pre and postoperative photos


At the same time period in fetal development that the branchial arches are

evolving into the face and head, the rest of the embryo’s organs and structures

are growing. Any child with a branchial arch anomaly should be thoroughly

evaluated for other congenital defects of the heart, kidneys, and spine. As these

children grow, careful attention to speech development, vision care, and

scholastic performance will alleviate the affects of any conditions not immediately

recognized in the infant.

Surgical Options

Approaching surgical correction for CFP can be frustrating for parents.

One is inclined to think that this malfunctioning nerve would just be replaced, as

if it were a bad extension cord: just find a good cord and plug it in to the socket

(the brain) and then into the tool (the muscle). Unfortunately, the situation is not

as straightforward as this.

The facial nerve leaves the brain and runs through a microscopically

narrow canal in the skull and jawbone, intertwined with other nerves. Even if a

surgeon could ascertain that the nerve’s conjunction with the brain was normal

and functioning, a replacement nerve could never be fitted back through the

narrow canal and the other nerves present in this crowded area would be highly

susceptible to damage. Additionally, the nerve itself contains several layers. If

the endoneural, perineural, or epineural layers are damaged, malformed, or

missing, the nerve may not function properly (Byrne, 2003). An attempt to

connect a nerve graft to a facial nerve that is compromised in this way would


fail. The site where the facial nerve connects to the muscles of facial expression

could also be compromised, or the muscles themselves could be malformed in

some way or atrophied from disuse (Byrne, 2003):

“Repair of the facial nerve is contraindicated when the motor endplate muscle unit is no longer functional. This occurs after long-standing paralysis in which fibrosis occurs along with atrophy of the facial musculature. In such instances, reinnervation is not successful.” (Byrne, 2003) Because of all these factors, neurosurgeons usually approach facial

reanimation by using nerves and muscles that are known to function properly.

The most popular and successful technique involves connecting the functioning

side of the face to the non-functioning side: essentially, this is like running an

extension cord from the neighbor’s garage to yours. Neurosurgeons usually

caution parents not to expect a perfectly symmetrical face and even smile after

recovery. Some asymmetry of the face may always be present, but symmetry

should increase and emotive facial expression should be restored. Many children

require physical therapy to develop their new smile after surgery.

Cross-face Neuromuscular Transplant

The cross-face neuromuscular transplant is a two-step procedure that

takes a nerve and a muscle from elsewhere in the body and transplants them to

the face to create a new smile. This surgery may be performed any time after

the donor nerve has grown to sufficient length, and is often recommended for

children in the year before the begin elementary school.

In the first stage, the sural nerve taken from the lower leg may provide up

to 35 cm and its removal results in inconsequential numbness in the side of the


foot. This donor nerve is connected to the functioning facial nerve on the

unaffected side of the face, and tunneled under the skin along the upper lip to

the affected side of the face. Microsurgical techniques allow the neurosurgeon to

perform this procedure using tiny incisions and gaining access through the

mouth, so scarring is very minimal. After implantation, the nerve is allowed to

recover and grow over six to twelve months (Snyder, 2003).

In the second stage of the procedure, a small donor muscle is taken from

the upper torso or leg and transplanted into the affected side of the face. Then,

the previously transplanted nerve graft is connected to the healthy motor end

plates of the transplanted muscle. Again, this microsurgery results in a few days

of discomfort and swelling, but very little scarring. After the two stages of

surgery are complete the waiting begins. Over the course of a few months, little

movements begin to appear and after 12 to 18 months, the patient has a new

smile. This procedure is reported to be highly successful, although sometimes

follow-up surgery may be required to adjust the symmetry of the face (Snyder,

2003).

Other surgical options…

Although the cross-face neuromuscular transplant is the most popular

surgery for patients with CFP, other procedures may be beneficial.

• Facial nerve grafts from existing facial nerves, including the hypoglossal

nerve that controls the tongue, are sometimes used. This allows an

existing facial nerve to control the existing muscles on the affected side, if

they are not atrophied (Byrne, 2003).


• Gold weights are sometimes placed in the eyelids to help with blinking

and eye closure (Shenaq, 2001; Lundstrom, 2002).

• Static slings are muscle or tissue in the face surgically altered to give

support to drooping muscles, but this procedure does not allow for

movement (Shenaq, 2001; Lundstrom, 2002).

• Botox injections may be used to relax the muscle contractions in the

unaffected side of the face to create greater symmetry (Lundstrom,

2002).

Working with a pediatric neurosurgeon who has extensive experience with all of

these procedures is ideal. Experience gives the surgeon the understanding to

customize the procedures and techniques chosen to suit the needs of the

individual patient.

Timing of reconstructive surgery is an individual choice for the family.

Many choose to have CFP corrected before the child begins school and is

subjected to the curiosity and cruelty of other children. Other parents choose to

allow the child to decide if and when to have reconstructive surgery, feeling it

should be the child’s choice to operate or not.


Up Close: Kids Living with CFP

When researching a rare condition or birth defect, one which most

physicians only read about briefly in medical school and never actually treat, the

most valuable information comes from parents who have experienced the

process of diagnosis and treatment personally. The following comments were

submitted by a group of CFP parents responding to an online survey.

How did you first become aware of your child’s condition?

“From birth. My husband and I noticed immediately that her left eye was

wide open. The Dr’s told us that she had a facial paralysis. We were told that it

was due to birth trauma and would heal itself in a couple weeks. We were told

that it was not uncommon for children with traumatic births to have some

paralysis. She was definitely stuck and did not turn the way she should have.

The doctor performed a vacuum extraction to get her out.”

“When my son was born, the midwife handed him to me immediately and

I cuddled him close to my body. My husband was videotaping a couple of feet

away. The baby didn’t cry immediately, but seemed to be waking from a sleep.

He was very calm and just looking at me. Then I saw the skin tags around his

ear and my heart just dropped. My first thought was about how worried my

husband had been that something would go wrong with the pregnancy, and I

instinctively covered the baby’s ear with my hand. I thought if I could hide it for

a few minutes it wouldn’t be such a shock. I started checking his body all over,

counting fingers and toes to make sure all his parts were there. I was just

overcome with love for him and the fear that something more serious could be


wrong. When the midwife took him from me to check him over, he started to cry

and we say that little face – his ‘Rocky Balboa’ grimace and that one little eye

wide open. Everyone in the room gasped audibly, and then the scramble began

as the nurses surrounded him to evaluate the problem. We were so afraid, and

the whole day seemed like one doctor after another. In the end, we were

relieved with the facial paralysis diagnosis. It seemed like a manageable

problem, and they reassured us that he would be healthy and of good

intelligence.”

How was your child diagnosed?

“My daughter was diagnosed after a process of elimination. She had CT

scans and MRI’s to determine if she had a skull fracture or other internal

obstruction such as a tumor. She saw an ENT (ear-nose-and throat doctor) to

make sure that the nerve was not compromised as a result of problems in that

area. She had a scan of some sort on her brainstem where the nerve should

have originated to make sure that the problem was not there. Finally, she saw

<a pediatric neurosurgeon> at the age of 18 months. She had several tests

including an EMG and other non-invasive physical tests. After reviewing all the

test results, <the neurosurgeon> concluded that because of the way she

presented at birth that it was likely that the nerve did not develop in utero

because she must have been pressing up against my pelvis. I do not want to get

her words wrong but she said something to the effect that other children who

presented the way she did have also had facial paralysis. She did not say it was

common but that it was a related factor.”


“When my son was born, the midwives were afraid his facial paralysis was

the result of a stroke. They sent us from the birth center directly to our

pediatrician who saw him in the emergency room. He evaluated the baby and

said he believed it was birth trauma related facial paralysis caused by the

pressure of my tailbone on his head during birth. He was in the “sunny-side-up”

position during birth instead of the normal head-down position, which caused

increased pressure on his head. We saw an ENT when he was a week old to

have his hearing evaluated. He had a normal hearing test and had the skin tags

around his ears removed when he was one-month-old. We saw a pediatric

neurologist after that and he said my son’s facial paralysis was the result of birth

trauma and would start getting better ‘any day now.’ My husband was so

relieved, but I kept worrying about the skin tags. If he had a defect around his

ears, wouldn’t that signal that his paralysis was probably a developmental

problem and not an injury? It was very stressful to go back to the neurologist

month after month, hoping for an improvement that never came. When he was

nine months old, we finally contacted a craniofacial team in a nearby large city.

They sent us for an MRI (my son’s first real diagnostic test) and were the first to

tell us he had congenital facial paralysis. I was very disappointed, but relieved to

finally be able to accept his diagnosis and move on. After two years, our son’s

condition is just a normal part of our lives. He is a happy and healthy boy, with

his own unique grin to fit his special personality.”


Resources

Craniofacial Defect Support Organizations

AboutFace USA

http://www.aboutfaceusa.org/

Children’s Craniofacial Association

http://www.childrenscraniofacial.com/

FACES: The National Craniofacial Association

http://www.faces-cranio.org/

Forward Face

http://www.forwardface.org/

Foundation for faces of children

http://www.facesofchildren.org/conditions/pharyngeal.html

Let’s Face It

http://www.faceit.org/

Little Baby Face Foundation

http://www.littlebabyface.org/index.htm

Moebius Syndrome Foundation

http://www.moebiussyndrome.com/

http://www.aboutfaceusa.org/

http://www.childrenscraniofacial.com/

http://www.faces-cranio.org/

http://www.forwardface.org/

http://www.facesofchildren.org/conditions/pharyngeal.html

http://www.faceit.org/

http://www.littlebabyface.org/index.htm

http://www.moebiussyndrome.com/


Source of Funding for travel expenses related to treatment

National Association of Councils on Developmental Disabilities:

Stipends for services and support are available through your state's

Developmental Disability Council, which you can locate through the

NACDD website at http://www.nacdd.org./.

Pediatric Neurosurgeons Specializing in CFP

This is not an exhaustive list of pediatric neurosurgeons experienced in

treating CFP. These are physicians that the author has consulted regarding CFP

diagnosis and reconstructive surgery.

Dr. Ronald Zuker, Toronto Facial Paralysis Group, The Hospital for Sick

Children

http://www.sickkids.on.ca/smile-surgery/default.asp

Dr. Jeffrey Marcus, Duke University Medical Center

http://inside.duke.edu/article.php?IssueID=68&ParentID=4604

Dr. Richard Ha, Children’s Medical Center of Dallas, Texas

http://www.kidsplastsurg.com/index.html

Dr. Fredrick Valauri, New York, NY

http://www.drvalauri.com/reconstructive/reconstruction.html

http://www.nacdd.org./

http://www.sickkids.on.ca/smile-surgery/default.asp

http://inside.duke.edu/article.php?IssueID=68&ParentID=4604

http://www.kidsplastsurg.com/index.html

http://www.drvalauri.com/reconstructive/reconstruction.html


Glossary

bilateral - two-sided: bilateral CFP is paralysis on both sides of the face

birth trauma – an injury occurring to an infant during the birthing process;

caused by compression of the head in the birth canal, or injury from the use of

delivery interventions such as forceps or vacuum extractors

branchial arches – the folds of tissue in the head region of an embryo that

develop into the structures of the head, face, and neck; also called pharyngeal

arches

congenital - existing from birth; a congenital condition could be caused by an

event at the time of birth, or resulting from an event occurring during

development before birth

developmental – resulting from an error in the growth process, not the result of

an injury; developmental defects can be the result of a genetic error, a vascular

problem (bleeding), or chemical exposure

unilateral - one-sided; unilateral CFP is paralysis on one side of the face only


References

Backous, D. D. (1991, December 7). From the Grand Rounds Archive at Baylor:

craniofacial microsomia. Retrieved March 29, 2004 from

http://www.bcm.tmc.edu/oto/grand/12791.html

Bascom, D. (2002). Facial nerve embryology. eMedicine. Retrieved February 16,

2004, from http://www.emedicine.com/ent/topic31.htm

Byrne, P. (2003). Facial nerve repair. eMedicine. Retrieved February 16, 2004,

from http://www.emedicine.com/ent/topic408.htm

Gilbert, P. (Ed.). (2000). Dictionary of syndromes and inherited disorders (3rd

ed.). Chicago: Fitzroy Dearborn.

Gray, H. (1977). Anatomy, descriptive and surgical (15th ed.). New York: Portland

House.

GulfLink: US Department of Defense. (1997, December 1). Goldenhar syndrome

among infants born in military hospitals to Gulf War veterans. Retrieved

February 16, 2004, from

http://www.defenselink.mil/news/Dec1997/b12011997_bt644-

97.htmlhttp://www.gulflink.osd.mil/faq_goldenhar_120397.html

Hadlock, T., Elisseeff, J., Langer, R., Vacanti, J., & Cheney, M. (1998, October).

A tissue-engineered conduit for peripheral nerve repair. Archives of

Otolaryngology-Head & Neck Surgery, 124(10). Retrieved April 29, 2004,

from http://www.bme.jhu.edu/labs/jhe/pdf/PB8.PDF

Hay, W., Hayward, A., Levin, M., & Sondheimer, J. (Eds.). (1999). Current

pediatric diagnosis and treatment (15th ed.). New York: McGraw Hill.


Lundstrom, K. (2002). Congenital facial paralysis. eMedicine. Retrieved February

16, 2004, from http://www.emedicine.com/ent/topic156.htm

Mandell, D.L. (2000). Syndromic and other congenital anomalies of the head and

neck: Head and neck anomalies related to the branchial apparatus.

Congenitos, 33(8). Retrieved March 29, 2004, from Otolaryngologic Clinics

of North America: http://www.sbccp.org.br/congenitos.htm

Palmer, C. A. (2001). Mobius syndrome. eMedicine. Retrieved February 16, 2004,

from http://www.emedicine.com/neuro/topic612.htm

Reading Hospital and Medical Center. (2004). Health library: hemifacial

microsomia. Retrieved March 29, 2004, from

http://www.readinghospital.org/content/greystone_3716.asp

Shenaq, S. M. (2001). Facial nerve paralysis. eMedicine. Retrieved February 16,

2004, from http://www.emedicine.com/plastic/topic522.htm

Snyder, M. C. (2003). Facial nerve paralysis, dynamic reconstruction. eMedicine.

Retrieved February 16, 2004, from

http://www.emedicine.com/plastic/topic218.htm

South Africa Department of Health. (2001, August 29). Abortion drug linked with

birth defects. Retrieved April 23, 2004, from

http://www.doh.gov.za/docs/news/2001/nz0829.html

Wynbrandt, J., Ludman, M. (2000). The encyclopedia of genetic disorders and

birth defects (2nd ed.). New York: Facts on File.


Images

Page 8 and 9:

Embryo Images Online

http://www.med.unc.edu/embryo_images/

Page 16:

Moebius image

http://www.emedicine.com/ent/topic156.htm

Page 17:

Hemifacial Microsomia image from Craniofacial Center of Dallas, Texas

http://www.thecraniofacialcenter.org/hm_traits.html

Page 19:

Goldenhar image from International Craniofacial Institute

http://www.craniofacial.net/before_after/craniofacial_before_after/goldenhar.asp

http://www.med.unc.edu/embryo_images/

http://www.emedicine.com/ent/topic156.htm

http://www.thecraniofacialcenter.org/hm_traits.html

http://www.craniofacial.net/before_after/craniofacial_before_after/goldenhar.asp

julie riggs parents guide cfp

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