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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
Congenital Facial Paralysis 2
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.
Congenital Facial Paralysis 3
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
Congenital Facial Paralysis 4
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
Congenital Facial Paralysis 5
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
Congenital Facial Paralysis 6
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
Congenital Facial Paralysis 7
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
Congenital Facial Paralysis 8
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
Congenital Facial Paralysis 9
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.
Congenital Facial Paralysis 10
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.
Congenital Facial Paralysis 11
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
Congenital Facial Paralysis 12
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
Congenital Facial Paralysis 13
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)
Congenital Facial Paralysis 14
• 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
Congenital Facial Paralysis 15
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
Congenital Facial Paralysis 16
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).
Congenital Facial Paralysis 17
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.
Congenital Facial Paralysis 18
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
Congenital Facial Paralysis 19
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
Congenital Facial Paralysis 20
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
Congenital Facial Paralysis 21
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).
Congenital Facial Paralysis 22
• 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.
Congenital Facial Paralysis 23
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
Congenital Facial Paralysis 24
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.”
Congenital Facial Paralysis 25
“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.”
Congenital Facial Paralysis 26
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/
Congenital Facial Paralysis 27
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
Congenital Facial Paralysis 28
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
Congenital Facial Paralysis 29
References
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Congenital Facial Paralysis 31
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