![Page 1: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/1.jpg)
Common Otolaryngological Congenital Abnormalities
Viet Pham, M.D.Lewis Hutchinson, M.D.Harold Pine, M.D.Shraddha Mukerji, M.D.
University of Texas Medical BranchGrand Rounds PresentationsNovember 22, 2010
Visual Synopsis of Classic Syndromes and Features
http
://w
ww
.exp
losm
.net
/com
ics
![Page 2: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/2.jpg)
Foreword and Acknowledgements
Special appreciation to Dr. Hutchinson for his assistance and contributionAdditional gratitude to Drs. Pine and Mukerji
All clinical photos are presented solely for educational purposesAll other photos were obtained via a Google search unless otherwise specified and are used without permission
http://www.explosm.net/comics
![Page 3: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/3.jpg)
Objective
Highlight typical features of congenital abnormalities evaluated in the otolaryngology practice
Visual emphasis on classical presentation of commonly encountered syndromes
![Page 4: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/4.jpg)
Down Syndrome (Trisomy 21)
Extra chromosome 21
Meiotic nondisjunction in gamete formation
Mosaicism (1-2%)
Robertsonian translocation (2-3%)
Duplication (rare)
Increased risk with advanced maternal age
Most common cause of intellectual disability
![Page 5: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/5.jpg)
Down Syndrome Features
Brachycephaly
Flat nasal bridge and occiput
Small, low-set ears
Macroglossia, glossoptosis
Upslanting palpebral fissures
Epicanthal folds
Brushfield spots
Simian crease
Sandal gap deformity of feet
Excessive nuchal folds
Mental retardation (courtesy of Dr. Hutchinson via Maria Blazo, M.D.)
![Page 6: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/6.jpg)
Down Syndrome Features
(Dou
rmis
hev,
200
9)
Simian creaseBrushfield spots Sandal deformityExcessive nuchal folds
Upslanting palpebral fissure
Macroglossia, glossoptosis
(Dou
rmis
hev,
200
9)
(Dou
rmis
hev,
200
9)
Microtic, low-set ears
Epicanthus
Brachycephaly
Flat nasal bridge, hypoplastic maxilla
![Page 7: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/7.jpg)
Down Syndrome Other Features
Muscular hypotonia
Strabismus
Congenital cataracts
Atrial or ventricular septal defect
Gastroesophageal reflux
Duodenal stenosis or atresia
Hirschsprung disease or celiac disease
Seizures
![Page 8: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/8.jpg)
Down Syndrome Prenatal Ultrasound
Absent nasal bones
First trimester (60-80%)
Second trimester (37-41%)
Hypoplastic nasal bones
Not useful as single marker in first trimester
Best used with absent nasal bones in second trimester (60-100%)
(Gonçalves, 2004)
![Page 9: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/9.jpg)
Down Syndrome Otolaryngological Considerations
Tympanostomy tubes
Esophageal atresia, tracheoesophageal fistula
Atlantoaxial instability
Obstructive sleep apnea
Hypothyroidism
Increased risk for malignancy
Acute lymphoblastic leukemia
Transient myeloproliferative disorder
![Page 10: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/10.jpg)
Crouzon Syndrome (Craniofacial Dysostosis)
Autosomal dominant
Virtually complete penetrance
Mutation of fibroblast growth factor receptor II (FGFR2) on chromosome 10
Affects first pharyngeal arch
Precursor maxilla and mandible
Early fusion of face and skull bones
(courtesy of Dr. Pine)
![Page 11: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/11.jpg)
Crouzon Syndrome Features
Craniosynostosis
Exophthalmos
Hypertelorism
Strabismus
Psittichorhina
Hypoplastic maxilla
Mandibular prognathism
(Jackson, 2009)
Caused by a mutation in the fibroblast growth factor receptor II, located on chromosome 10this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandibleWhat occurs in the disease is that an infant's skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to different patterns of growth of the skull. hypoplastic maxilla: insufficient growth of the midfacemandibular prognathism: chin appears to protrude despite normal growth of mandible and gives the effect of the patient having a concave faceMental retardation possible if premature closure of the cranial suture linesPsittichorhina: beak-like nose
![Page 12: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/12.jpg)
Crouzon Syndrome Features
Cranial synostosis Exophthalmos Hypertelorism
Strabismus
Hypoplastic maxilla
Mandibular prognathism
Psittichorhina
(Jac
kson
, 200
9)
![Page 13: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/13.jpg)
Crouzon Syndrome Otolaryngological Considerations
Hearing loss in 1/3 of cases
Auricular misalignment
Ossicular fixation
Serous otitis media
Sensorineural and mixed hearing losses
Surgical craniofacial reconstruction
(http://candar.wordpress.com)
![Page 14: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/14.jpg)
Crouzon Syndrome Otolaryngological Considerations
Surgical craniofacial reconstruction
(Jackson, 2009)
![Page 15: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/15.jpg)
Apert Syndrome (Acrocephalosyndactyly)
Autosomal dominant
Craniofacial abnormalities by FGFR2 mutations
Syndactyly by keratinocyte growth factor receptor (KGFR) mutations
Parents pass on to offspring 50% of the time
Sporadic mutation in 98%
Affects first pharyngeal arch
(Shah AR, Danahey DG. Distraction Osteogenesis of the Maxilla. eMedicine 11 Feb 2009.)
![Page 16: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/16.jpg)
Apert Syndrome Features
Craniofacial dysostosis
Hypoplastic maxilla
Frontal prominence
Syndactyly
Exophthalmos
Hypertelorism
Saddle nose, depressed nasal bridge
Oral cavity
High-arched palate, cleft palate
Dental abnormalities
(cou
rtesy
of D
r. H
utch
inso
n)
![Page 17: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/17.jpg)
Apert Syndrome Features
Craniofacial dysostosis
Hypoplastic maxilla
Frontal prominence
Syndactyly
Depressed nasal bridge
Malocclusion Ectopic eruption
Hypertelorism
(Che
n, 2
009)
![Page 18: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/18.jpg)
Apert Syndrome Dr. Hutchinson’s mnemonic
Apert = Crouzon + Syndactyly
![Page 19: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/19.jpg)
Apert Syndrome Otolaryngological Considerations
Conductive hearing loss
Chronic otitis media
Stapes fixation
Patent cochlear aqueduct
Surgical craniofacial reconstruction (Jackson, 2009)
![Page 20: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/20.jpg)
Treacher Collins Syndrome (Mandibulofacial Dysostosis)
Also known as Franceschetti-Zwahlen-Klein syndrome
Autosomal dominant
TCOF1 gene on chromosome 5q
New mutation in up to 60%
Complete penetrance, variable expression
First and second pharyngeal arches, grooves, and pouches
![Page 21: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/21.jpg)
Treacher Collins Syndrome Features
Characteristic facial dysmorphia
Downward slanting palpebral fissures
Hypoplastic supraorbital rims
Malar hypoplasia
Mandibular hypoplasia
Auricular and middle ear malformations
Lower eyelid coloboma
May have cleft palate
Normal intelligence
(Tolarova, 2009)
![Page 22: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/22.jpg)
Treacher Collins Syndrome Features
Downward slanting palpebral fissures
Lower eyelid colobomas
Hypoplastic supraorbital rims
Mandibular hypoplasia
Auricular malformation
Malar hypoplasia
(cou
rtesy
of D
r. H
utch
inso
n)
![Page 23: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/23.jpg)
(cou
rtesy
of D
r. H
utch
inso
n)
Treacher Collins Syndrome Features
Downward slanting palpebral fissures
Lower eyelid colobomas
Hypoplastic supraorbital rims
Mandibular hypoplasia
Auricular malformation
Malar hypoplasiaScant lower eyelashes
![Page 24: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/24.jpg)
Treacher Collins Syndrome Otolaryngological Considerations
Hearing
Conductive hearing loss in 30%
Ossicular malformation
Microtia and/or canal atresia
Mastoid hypoplasia
Some sensorineural hearing loss and vestibular dysfunction
Upper airway obstruction
(Tol
arov
a, 2
009)
![Page 25: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/25.jpg)
Treacher Collins Syndrome Otolaryngological Considerations
Surgical craniofacial reconstruction
(Jackson, 2009)
![Page 26: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/26.jpg)
Goldenhar Syndrome Oculoauriculovertebral Dysplasia
Diverse etiologies
In utero vascular disruption with hematoma
Disturbed neural crest cells at 30-45 days gestation
No single genetic locus
First and second branchial arch
Hemifacial microsomia when no internal organ or vertebral disruption
![Page 27: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/27.jpg)
Goldenhar Syndrome Features
Hemifacial microsomia
Mandibular hypoplasia
Microstomia
Epibulbar lipodermoids
Upper eyelid coloboma
Vertebral anomalies
(Bai
ley,
200
6)
![Page 28: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/28.jpg)
Goldenhar Syndrome Features
Hemifacial microsomia
Epibulbar dermoid
Mandibular hypoplasia
Microtia and preauricular tags/pits
Upper eyelid coloboma
![Page 29: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/29.jpg)
OMENS
Orbital distortion
Mandibular hypoplasia
Ear anomaly
Nerve (facial) involvement
Soft-tissue deficiency
“Plus” to include additional anomalies
Cardiac
Skeletal, limb
Pulmonary
Renal
Gastrointestinal
Goldenhar Syndrome Classification Scheme
And
erso
n P
J, D
avid
DJ.
Spi
nal a
nom
alie
s in
Gol
denh
arsy
ndro
me.
Cle
ft P
alat
e-C
rani
ofac
ial J
ourn
al20
05; 4
2:47
7-80
.
![Page 30: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/30.jpg)
Goldenhar Syndrome Classification Scheme: Mandible
Normal mandible(Horgan, 1995)
![Page 31: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/31.jpg)
Goldenhar Syndrome Classification Scheme: Mandible
Type ISmaller mandible but identifiable mandible
(Horgan, 1995)
![Page 32: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/32.jpg)
Goldenhar Syndrome Classification Scheme: Mandible
Type II
Type IIAGlenoid fossa is in an acceptable position
Functioning temporomandibular joint (TMJ) but abnormal shape and glenoid fossa
(Horgan, 1995)
![Page 33: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/33.jpg)
Goldenhar Syndrome Classification Scheme: Mandible
Type II
Type IIBAbnormally placed TMJ cannot be incorporated into surgical
reconstruction
Functioning temporomandibular joint (TMJ) but abnormal shape and glenoid fossa
(Horgan, 1995)
![Page 34: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/34.jpg)
Goldenhar Syndrome Classification Scheme: Mandible
Type IIIAbsent ramus and nonexistent glenoid fossa
(Horgan, 1995)
![Page 35: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/35.jpg)
Goldenhar Syndrome Classification Scheme
Orbits
Ear
(Horgan, 1995)
![Page 36: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/36.jpg)
Goldenhar Syndrome Classification Scheme
Facial Nerve
Soft tissue defect
(Horgan, 1995)
![Page 37: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/37.jpg)
Goldenhar Syndrome Otolaryngological Considerations
Hearing loss
More conductive than sensorineural
Ossicular abnormalities
Microtia
Aberrant facial nerve course
Surgical craniofacial reconstruction
![Page 38: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/38.jpg)
Pierre Robin Syndrome
Sequence of micrognathia, glossoptosis, and cleft palate
Syndrome reserved for multiple malformations by a single etiology
Confusing classification, up to 14 definitions (Breugem 2009)
Possibly due to arrested intrauterine development
Mechanical
Neurological
Ontogenesis
(Tolarova, 2009)
![Page 39: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/39.jpg)
Pierre Robin Syndrome Features
Cleft palate
Glossoptosis
Retrognathia
Macroglossia and ankloglossia uncommon
Micrognathia
(Jackson, 2009) (cou
rtesy
of D
r. H
utch
inso
n)
(cou
rtesy
of D
r. H
utch
inso
n)
![Page 40: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/40.jpg)
Pierre Robin Syndrome Sequence
Mandibular hypoplasia
Between 7-11 weeks gestation
Mandible gets temporarily “stuck” between clavicle and sternum
Oligohydramnios
Tongue remains high in oral cavity
Cleft palate results from failed closure of palatal shelves
U-shaped cleft palate (80%), can have V-shaped (20%)
Typically no cleft lip
![Page 41: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/41.jpg)
Pierre Robin Syndrome Otolaryngological Considerations
Airway compromise
Upper airway obstruction
Feeding, aspiration
Subglottic stenosis
Hearing loss
Otitis media most common (60%)
Auricular malformation
Mixed hearing loss
Associated syndromes
Stickler (18-25%)
Velocardiofacial (7-15%)
Treacher Collins (5%)
Hemifacial microsomia (3%)
Mandibular “catch up” if isolated sequence
(Tolarova, 2009)
![Page 42: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/42.jpg)
Pierre Robin Syndrome Otolaryngological Considerations
Distraction osteogenesis
Intubation, tracheostomy
(Tol
arov
a, 2
009)
Cleft palate repair
(courtesy of Dr. Hutchinson)
![Page 43: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/43.jpg)
Stickler Syndrome
Autosomal dominant
Mutations of type II and XI collagen
COL2A1 gene on chromosome 12
COL11A1 and COL11A2 genes on chromosome 6
COL9A1 is rare recessive variant
Craniofacial, ocular, and arthopathic features
![Page 44: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/44.jpg)
Stickler Syndrome Features
“Flattened” face
Ocular findings
Musculoskeletal abnormalities
Cleft palate
(cou
rtesy
of D
r. H
utch
inso
n vi
a M
aria
Bla
zo, M
.D.)
![Page 45: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/45.jpg)
Stickler Syndrome Features
(Tolarova, 2009) (Pou
lson
, 200
4)
Midfacial hypoplasia
Long philtrum
Short upturned nose
Micrognathia
![Page 46: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/46.jpg)
Stickler Syndrome Features
Ocular
Myopia
Glaucoma
Retinal detachment
Cataracts
Musculoskeletal
Osteoarthritis
Joint hypermobility
Abnormal epiphyseal development
Vertebral abnormalities
Scoliosis
![Page 47: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/47.jpg)
Stickler Syndrome Otolaryngological Considerations
Hearing loss
Mild to moderate sensorineural hearing loss (SNHL) in 80%
Significant SNHL or mixed hearing loss in 15%
Conductive component secondary to eustachian tube dysfunction from cleft palate
Ossicular abnormalities may be present
Pierre Robin sequence
Present in 25% of Stickler syndrome
Cleft palate
Micrognathia
(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)
![Page 48: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/48.jpg)
Waardenburg Syndrome
Autosomal dominant
Multiple genes
PAX3 (Types 1 and 3)
MITF, SNAI2 (Type 2)
EDN3, EDNRB, SOX10 (Type 4)
Autosomal recessive for Type 4
Variable penetrance
Hearing loss
Dystopia canthorum
Pigmentary abnormalities
(cou
rtesy
of D
r. H
utch
inso
n)
![Page 49: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/49.jpg)
Waardenburg Syndrome Features
Dystopia canthorum
Flat nasal root
Hypoplastic nasal alae
Synophyrs
Heterochromia irides
Isohypochromia irides
White forelock
Vitiligo
Cleft lip and palate (10%)
(Schwartz, 2010)
![Page 50: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/50.jpg)
Waardenburg Syndrome Features
Flat nasal root
Heterochromia irides
Dystopia canthorum
Synophyrs
(Schwartz, 2010)
White forelock Hypoplastic alae Short philtrum
(cou
rtesy
of D
r. H
utch
inso
n)
Isohypochromia irides
![Page 51: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/51.jpg)
Waardenburg Syndrome Features
Major
Heterochromia irides
White forelock
Dystopia canthorum
Congenital sensorineural hearing loss
Affected first-degree relative
Minor
Congenital leucoderma
Synophyrs
Broad high nasal root
Hypoplastic nasal alae
Premature graying hair
![Page 52: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/52.jpg)
Waardenburg Syndrome Diagnosis
Major
Heterochromia irides
White forelock
Dystopia canthorum
Congenital sensorineural hearing loss
Affected first-degree relative
Minor
Congenital leucoderma
Synophyrs
Broad high nasal root
Hypoplastic nasal alae
Premature graying hair
Diagnosis
2 major features
1 major features + 2 minor features
![Page 53: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/53.jpg)
Waardenburg Syndrome Subtypes
Type 1
Full symptomatology
Facial asymmetry, dysmorphic facies
Type 2
No dystopia canthorum, white forelock less common
Sensorineural hearing loss, heterochomia irides
Type 3 (Klein-Waardenburg syndrome)
Similar to Type 1 but with skeletal anomalies and mental retardation
Rib aplasia, cystic sacrum, cutaneous syndactyly
Type 4 (Shah-Waardenburg syndrome)
Association with Hirschsprung disease
(Schwartz, 2010)
(courtesy of Dr. Hutchinson)
![Page 54: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/54.jpg)
Waardenburg Syndrome Subtypes
Type 1
Full symptomatology
Facial asymmetry, abnormal facies
Type 2
No dystopia canthorum, white forelock less common
Sensorineural hearing loss, heterochomia irides
Type 3 (Klein-Waardenburg syndrome)
Similar to Type 1 but with skeletal anomalies and mental retardation
Rib aplasia, cystic sacrum, cutaneous syndactyly
Type 4 (Shah-Waardenburg syndrome)
Association with Hirschsprung disease(courtesy of Dr. Hutchinson)
![Page 55: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/55.jpg)
Waardenburg Syndrome Subtypes
Type 1
Full symptomatology
Facial asymmetry, abnormal facies
Type 2
No dystopia canthorum, white forelock less common
Sensorineural hearing loss, heterochomia irides
Type 3 (Klein-Waardenburg syndrome)
Similar to Type 1 but with skeletal anomalies and mental retardation
Rib aplasia, amyoplasia, cystic sacrum, cutaneous syndactyly
Type 4 (Shah-Waardenburg syndrome)
Association with Hirschsprung disease
![Page 56: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/56.jpg)
Waardenburg Syndrome Subtypes
Type 1
Full symptomatology
Facial asymmetry, abnormal facies
Type 2
No dystopia canthorum, white forelock less common
Sensorineural hearing loss, heterochomia irides
Type 3 (Klein-Waardenburg syndrome)
Similar to Type 1 but with skeletal anomalies and mental retardation
Rib aplasia, cystic sacrum, cutaneous syndactyly
Type 4 (Shah-Waardenburg syndrome)
Association with Hirschsprung disease
![Page 57: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/57.jpg)
Waardenburg Syndrome Otolaryngological Considerations
Congenital sensorineural deafness
Typically not progressive
Hearing amplification
Cochlear implantation
Cleft lip or palate repair
Cosmetic considerations
![Page 58: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/58.jpg)
Beckwith-Wiedemann Syndrome
Imprinting defect at chromosome 11p15
Most cases are sporadic
Autosomal dominant familial inheritance in 15%
Most common overgrowth syndrome in infancy
Five common features
Macroglossia
Macrosomia
Midline abdominal wall defect
Ear pits/creases
Neonatal hypoglycemia
(courtesy of Dr. Hutchinson)
![Page 59: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/59.jpg)
Beckwith-Wiedemann Syndrome
Imprinting defect at chromosome 11p15
Most cases are sporadic
Autosomal dominant familial inheritance in 15%
Most common overgrowth syndrome in infancy
Five common features
Macroglossia
Macrosomia
Midline abdominal wall defect
Ear pits/creases
Neonatal hypoglycemia
![Page 60: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/60.jpg)
Beckwith-Wiedemann Features
Macroglossia
Macrosomia Ear pits/creases
Midline abdominal defect
(cou
rtesy
of D
r. H
utch
inso
n vi
a M
aria
Bla
zo, M
.D.)
![Page 61: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/61.jpg)
Beckwith-Wiedemann Features
Major
Midline abdominal defect
Macroglossia
Macrosomia
Ear pits/creases
Adrenocortical cytomegaly
Renal abnormalities
Embryonal tumors
Cleft palate (rare)
Hemihyperplasia
![Page 62: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/62.jpg)
Beckwith-Wiedemann Features
Major
Midline abdominal defect
Macroglossia
Macrosomia
Ear pits/creases
Adrenocortical cytomegaly
Renal abnormalities
Embryonal tumors
Cleft palate (rare)
Hemihyperplasia
Minor
Neonatal hypoglycemia
Polyhydramnios
Prematurity
Facial nevus flammeus
Hemangioma
Characteristic facies (i.e. midface hypoplasia)
Cardiac anomalies
Diastasis recti
Advanced bone age
![Page 63: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/63.jpg)
Beckwith-Wiedemann Diagnosis
Major
Midline abdominal defect
Macroglossia
Macrosomia
Ear pits/creases
Adrenocortical cytomegaly
Renal abnormalities
Embryonal tumors
Cleft palate (rare)
Hemihyperplasia
Minor
Neonatal hypoglycemia
Polyhydramnios
Prematurity
Facial nevus flammeus
Hemangioma
Characteristic facies (i.e. midface hypoplasia)
Cardiac anomalies
Diastasis recti
Advanced bone age
Diagnosis
At least 2 common features
3 major features
2 major features + 3 minor features
![Page 64: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/64.jpg)
Beckwith-Wiedemann Otolaryngological Considerations
Macroglossia
Airway obstruction, feeding difficulty
Less noticeable with age
Increased risk of malignancy
Wilms’ tumor
Hepatoblastoma
Surveillance
Abdominal ultrasound every 3 months until 8 years
Alpha-fetoprotein every 6 weeks until 4 years
![Page 65: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/65.jpg)
Neurofibromatosis Type 1 (von Recklinghausen)
Peripheral neurofibromatosis
Autosomal dominant
Neurofibromin gene (NF1) on chromosome 17
Half result from de novo mutation
Variable expression
Better prognosis than Neurofibromatosis Type 2
(Dahl, 2010)
(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)
![Page 66: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/66.jpg)
Neurofibromatosis, Type 1 Features
Café au lait spots
Cutaneous neurofibromas
Plexiform neuromas
Lisch nodules
Axillary or perineum freckling (Crowe sign)
Optic gliomas
Bone abnormalities
![Page 67: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/67.jpg)
Neurofibromatosis, Type 1 Features
Cutaneous neurofibomas
Plexiform neuroma Optic glioma Lisch nodulesLong bone bowing
Café au lait spots Axillary freckling
(Dah
l, 20
10)
(cou
rtesy
of D
r. H
utch
inso
n vi
a M
aria
Bla
zo, M
.D.)
![Page 68: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/68.jpg)
Neurofibromatosis, Type 1 Diagnosis
Six or more café au lait macules
Diameter larger than 5mm in prepubescent
Diameter larger than 15mm in adults
Two or more neurofibromas or one plexiform neurofibroma
Axillary or inguinal freckling
Optic glioma
Two or more Lisch nodules
Distinctive osseous lesion
First-degree relative with condition
(Naz
aret
h, 2
010)
![Page 69: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/69.jpg)
Neurofibromatosis Type 2
Central neurofibromatosis
Autosomal dominant
NF2 (Merlin) gene on chromosome 22
Approximately 10% of all individuals with neurofibromatosis
Significant morbidity, decreased lifespan
Paucity of café au lait spots and Crowe sign
(Pletcher, 2010)
![Page 70: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/70.jpg)
Neurofibromatosis, Type 2 Features
Café au lait spots
Schwannomas
Bilateral acoustic neuromas
Spinal cord
Nonvestibular
Subcapsular cataracts
Meningiomas
Kut
zJW
Jr,
Rol
and
PS, I
saac
son
B. S
kull
base
, aco
ustic
ne
urom
a(v
estib
ular
sch
wan
nom
a): m
ultim
edia
. eM
edic
ine
24 S
ep 2
009.
Acc
esse
d 5
Nov
201
0 <h
ttp://
emed
icin
e.m
edsc
ape.
com
/arti
cle/
8828
76-m
edia
>.
![Page 71: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/71.jpg)
Neurofibromatosis, Type 2 Diagnosis
Bilateral vestibular schwannomas
Presumptive
Affected first-degree relative
Unilateral vestibular schwannoma
Or two of the following:
Meningioma
Glioma
Schwannoma
Juvenile posterior subcapsular or cortical cataract
Suggestive
Unilateral vestibular schwannoma
Two of the following:
Meningioma
Glioma
Schwannoma
Juvenile posterior subcapsular or cortical cataract
Or multiple meningiomas
![Page 72: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/72.jpg)
Klippel-Feil Syndrome (Brevicollis, Wildervanck)
Cervical vertebral fusion
Type I – single level
Type II – multiple, noncontiguous segments
Type III – multiple, contiguous segments
Short, webbed neck and low hairline
Unclear etiology
Associated abnormalities
Sprengel deformity
Scoliosis
Facial asymmetry
Renal abnormalities(Sullivan, 2009)
![Page 73: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/73.jpg)
Other Syndromes Without Craniofacial Features
Usher
Hearing loss with defective inner ear
Type I – deafness and vestibular dysfunction
Type II – nonprogressive hearing loss and normal vestibular function
Type III – progressive hearing loss and half vestibular function
Progressive vision loss from retinitis pigmentosa
Pendred
Sensorineural hearing loss
Thyroid goiter
Jervell and Lange-Neilsen
Defective potassium channel from KCNQ1 and KCNE1 mutations
Sensorineural hearing loss and palpitations (long QT syndrome)
YeahYeah
Yeah
![Page 74: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/74.jpg)
Conclusion
Many syndromes will present to the otolaryngologist
Warrant otolaryngological intervention
Attention to coexisting conditions
Many affected individuals are aware of the social stigma related to their condition
http://www.explosm.net/comics
![Page 75: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/75.jpg)
References
Admiraal RJ, et al. Hearing impairment in Stickler syndrome. Adv Otorhinolaryngol 2002; 61:216-23.Bailey BJ, Johnson JT, Newlands SD, eds. Head and Neck Surgery – Otolaryngology, 4th Ed. Philadelphia:
Lippincott, 2006. pp 1311-2,1380-6,2794.Breugem CC, Courtemanche DJ. Robin sequence: clearing nosologic confusion. Cleft Palate Craniofac J
2010; 47:197-200.Chen H. Apert syndrome. eMedicine 2 Sep 2009. Accessed 12 Oct 2010
<http://emedicine.medscape.com/article/941723-overview>.Chen H. Crouzon syndrome. eMedicine 10 Sep 2009. Accessed 12 Oct 2010
<http://emedicine.medscape.com/article/942989-overview>.Chen H. Down syndrome. eMedicine 22 Mar 2010. Accessed 31 Oct 2010
<http://emedicine.medscape.com/article/943216-overview>.Crawford AH, Schorry EK. Neurofibromatosis update. J Pediatr Orthop 2006; 26:413-23.Dahl AA, Grostern RJ. Neurofibromatosis-1. eMedicine 21 May 2010. Accessed 5 Nov 2010
<http://emedicine.medscape.com/article/1219222-overview>.DeBaun MR, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann
syndrome with cancer and birth defects. Am J Hum Genet 2002; 70:604-11.DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith
Wiedemann Syndrome Registry. J Pediatr 1998; 132:398-400.DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of
neurofibromatosis 1 in children. Pediatrics 2000; 105(3 Pt 1):608-14.
![Page 76: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/76.jpg)
References
Dourmishev AL, Janniger CK. Down syndrome. eMedicine 1 Jul 2009. Accessed 4 Nov 2010 <http://emedicine.medscape.com/article/1113071-overview>.
Dourmishev LA, Janniger CK. Waardenburg syndrome. eMedicine 2 Jun 2009. Accessed 30 Oct 2010 <http://emedicine.medscape.com/article/1113314-overview>.
Elliott M, et al. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clinical Genetics 1994; 46:168-74.
Farrer LA, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet 1992; 50:902-13.
Ferry RJ. Beckwith-Wiedemann syndrome. eMedicine 15 Apr 2010. Accessed 23 Oct 2010 <http://emedicine.medscape.com/article/919477-overview>.
Flint PW, et al, eds. Cummings Otolaryngology: Head and Neck Surgery, 5th Ed. Philadelphia: Mosby Elsevier, 2010. ch 147, 184.
Gould HJ, Caldarelli DD. Hearing and otopathology in Apert syndrome. Archives of Otolaryngology 1982; 108:347-9.
Gonçalves LF, Espinoza J, Lee W, et al. Phenotypic characteristics of absent and hypoplastic nasal bones in fetuses with Down syndrome: description by 3-dimensional ultrasonography and clinical significance. J Ultrasound Med 2004; 23:1619-27.
Handzic J, et al. Hearing levels in Pierre Robin syndrome. Cleft Palate Craniofac J 1995; 32:30-6.Hata T, Todd MM. Cervical spine considerationswhen anesthesizing patients with Down syndrome.
Anesthesiology 2005; 102:680-5.
![Page 77: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/77.jpg)
References
Heike CL, Hing AV. Craniofacial microsomia review. Gene Review. Eds. Pagon RA, et al. 19 Mar 2009. Accessed 23 Oct 2010 <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=m-hfm-ov>.
Horgan JE, et al. OMENS-plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. Cleft Palate Craniofac J 1995; 32:405-12.
Jackson IT, Malhotra G. Congenital syndromes. eMedicine 2 Jul 2009. Accessed 12 Oct 2010 <http://emedicine.medscape.com/article/1280034-overview>.
Jakobsen LP, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J 2006; 43:155-9.Lee KJ, ed. Essential Otolaryngology – Head and Neck Surgery, 9th Ed. New York: McGraw Hill, 2008. pp
139-59.Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am
J Med Genet 1995; 55:95-100.Nazareth MR, Helm TN. Neurofibromatosis. eMedicine 16 Jun 2010. Accessed 5 Nov 2010
<http://emedicine.medscape.com/article/1112001-overview>.Nowak CB. Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord 1998; 31:437-54.Orvidas LJ, et al. Hearing and otopathology in Crouzon syndrome. Layrngoscope 1999; 109:1372-5.Peterson-Falzone SJ, Hardin-Jones MA, Karnell MP. Cleft Palate Speech, 4th Ed. St. Louis: Mosby, 2010.Pletcher BA. Neurofibromatosis, type 2. eMedicine 3 Mar 2010. Accessed 5 Nov 2010
<http://emedicine.medscape.com/article/1178283-overview>.Poulson AV, et al. Clinical features of type 2 Stickler syndrome. J Med Genet 2004; 41:e107.
![Page 78: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/78.jpg)
References
Pron G, et al. Ear malformation and hearing loss in patients with Treacher Collins syndrome. Cleft Palate Craniofac J 1993; 30:97-103.
Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. Gene Review. Eds. Pagon RA, et al. 27 Sept 2007. Accessed 19 Oct 2010 <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis>.
Saenz RB. Primary care of infants and young children with Down syndrome. Am Fam Physician 1999; 59:381- 90,392,395-6.
Samartzis DD, Herman J, Lubicky JP. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 2006; 31:F798-804.
Samartzis D, Lubicky JP, Herman J. Symptomatic cervical disc herniation in a pediatric Klippel-Feil patient: the risk of neural injury associated with extensive congenitally fused vertebrae and a hypermobile segment. Spine 2006; 31:F335-8.
Sangkhathat S, et al. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. Pediatr Surg Int 2005; 21:960-3.
Schwartz RA, Jozwiak S, Krantz I. Waardenburg syndrome. eMedicine 4 Jun 2010. Accessed 24 Oct 2010 <http://emedicine.medscape.com/article/950277-overview>.
Spivey PS, Bradshaw WT. Recognition and management of the infant with Beckwith-Wiedemann syndrome. Adv Neonatal Care 2009; 9:279-84.
Sullivan AJ. Klippel-Feil syndrome. eMedicine 23 Jun 2009. Accessed 5 Nov 2010 <http://emedicine.medscape.net/article/1264848-diagnosis>.
![Page 79: Common Otolaryngological Congenital Abnormalities Viet Pham](https://reader030.vdocument.in/reader030/viewer/2022013123/586cd7711a28ab04198b92c0/html5/thumbnails/79.jpg)
References
Tewfik TL, Trinh N, Teebi AS. Pierre Robin Syndrome. eMedicine 4 Mar 2010. Accessed 21 Oct 2010 <http://emedicine.medscape.com/article/844143-overview>.
Tolarova MM. Pierre Robin Malformation. eMedicine 25 Mar 2009. Accessed 21 Oct 2010 <http://emedicine.medscape.com/article/995706-overview>.
Tolarova MM, Wong GB, Varma S. Mandibulofacial dysostosis. eMedicine 24 Nov 2009. Accessed 17 Oct 2010 <http://emedicine.medscape.com/article/946143-overview>.
Verheij JB, et al. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Eur J Paediatr Neurol 2006; 10:11-7.
Watanabe A, et al. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998; 18:283-6.