CRANIOFACIAL SYNDROMES Flashcards
HEMIFACIAL MICROSOMIA
oculo-auriculo-vertebral spectrum
1st + 2nd branchial arch syndrome
1) Incidence
2) Inheritance
3) Etiology
4) Features (OMENS)
5) Classification?
1) 1 in 3500
90% unilateral
10% bilateral
2) sporadic
3) theories:
- mesodermal defect
- teratogens
- stapedial a.
4) O: inferior displacement lat canthus, small palpebral fissure, microphthalmia
M: hypoplasia ramus+condyle, occlusal cant, cross bite, class III malocclusion, ↓ vertical height maxilla, hypoplastic + absent arch
E: preauricular tags, CHL, microtia
N: CN VII palsy, hydrocephalus
S: temporal hollowing, hypoplastic soft tissues of cheek + muscles of mastication, parotid gland hypoplasia, macrostomia, VPI
5) modified Pruzansky
I: mild hypoplasia ramus, N morphology
II: hypoplasia + abN morphology of ramus + condyle
A. normal glenoid fossa: condyle relationship (good function)
B. hypoplastic + medially-displaced condyle (restricted function)
III: complete agenesis of ramus + TMJ
Meurmann:
I: small auricle, all components present
II: vertical remnant + EAC atresia
III: complete absence, small lobular remnant
GOLDENHAAR
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) more likely bilateral
2) Sporadic
3) None indicated
4) hemifacial microsomia AND epibulbar dermoids
vertebral + cardiac anomalies
TREACHER-COLLINS
mandibulo-facial dysostosis
incomplete 6,7,8 = TC
complete = Franceschetti
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 10,000
2) AD
3) TCOF1 gene
chromosome 5
4) O: coloboma outer 1/3 lower lid, absent medial lower eyelashes, antimongoloid slant, hypertelorism
M: bilat + symmetric hypoplasia of zygoma, maxilla, mandible
class II malocclusion, CL/P, VPI, choanal atresia
CF clefts 6, 7, 8
convex facial profile
E: microtia, EAC atresia, CHL
N: protruding nose, parrot beak
normal intelligence
NAGER
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) Rare
2) AR
3) None indicated
4) TC features + hand deformities (radial/ulnar hypoplasia)
no colobomas
BINDER
nasomaxillary dysplasia
dish-face deformity
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 10,000
M=F
2) AR
incomplete penetrance
3) hypoplasia of premaxilla
4) nose: short + flat, obtuse NF angle
absent cartilaginous septum
hypoplastic / posteriorly displaced ANS
pre-nasal fossa depression
crescent-shaped nostrils
maxillary retrusion
class III malocclusion
MOBIUS
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Other info, association ?
1) 1 in 50,000
2) AD, AR, sporadic
3) ? agenesis of CN nuclei
4) bilateral CN VII palsies (upper > lower)
bilateral CN VI palsies (65%)
bilabial speech (plosives)
ophthalmoplegia + ptosis: CN III (25%) + CN IV
dysphagia: CN IX + X (<10%)
tongue atrophy: CN IX (<10%)
CF: hypertelorism, epicanthal folds, vertical maxillary excess, class II malocclusion, open bite
MSK: club foot, syndactyly
5) MR (10%)
a/w Poland, Klippel-Fiel, Kallman syndromes
ROMBERG
Parry-Romberg syndrome
progressive hemifacial atrophy
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Other info, onset, burn out?
1) F>M = 3:2
bilateral 5%
2) sporadic
3) theories:
- autoimmune vasculitis
- HSV infection
- trigeminal neuritis
- scleroderma
4) starts in localized area → pigmented streak
coupe de sabre (midline forehead or facial cleft)
soft tissue atrophy in CN V distribution
CNS: epilepsy, trigeminal neuralgia
orbit: Horner’s, enophthalmos, vertical dystopia (2o to orbital fat atrophy)
bony hypoplasia of lower 2/3 - crossbite, occlusal can’t
5) mean onset: 10 yrs old
burns out after 2-10 years
do not Tx in active phase
FIBROUS DYSPLASIA
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Types?
1) None indicated
2) sporadic
3) IL-6 mutation
4) painless, progressive bone enlargement
maturation stops at woven stage (no lamellar bone)
maxilla (m/c): facial asymmetry, malocclusion
frontal bone (2nd m/c): orbital dystopia
sphenoid: optic n. compression, proptosis, impingement on neural foramina
axial skeleton: pathologic fractures
5) 3 types:
1. monostotic
2. polyostotic
3. McCune Albright: precocious puberty, café-au-lait spots, polyostotic fibrous dysplasia
CHERUBISM possibly a form of FD
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Other info, age, onset ?
1) 300 cases
F=M
2) AD, incomplete penetrance
sporadic
3) SH3BP2 mutation
4p16.3
4) symmetric, bilateral fibrous bony overgrowth of mandible + maxilla → soap-bubble appearance
if lesions are large, may get ectropion, vertical dystopia, airway problems
pathologically indistinguishable from giant cell granuloma
5) usually begins ~age 3-4
often regresses spontaneously in 2+3rd decades
KLIPPEL-FEIL
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) None indicated
2) None indicated
3) None indicated
4) fusion of >2 cervical or thoracic vertebrae
torticollis
short, webbed neck
low posterior hairline
spina bifida
abnormal kidneys
TURNER
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Association?
1) 1 in 5000
2) x-linked
3) XO
4) small stature
low posterior hairline + webbed posterior neck
gonadal dysgenesis
broad chest, widely spaced nipples
epicanthal folds, narrow maxilla, hypoplastic mandible
5) Kirner’s deformity
NOONAN
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 2500
2) AD
3) None specified
4) pectus excavatum, webbed neck, abnormal facies
coagulopathies
KLINEFELTER
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Risks and surgical procedure associated ?
1) 1 in 1000
2) None specified
3) XXY
4) testicular hypoplasia - infertile
gynecomastia
osteoporosis
5) high risk of male breast cancer → prophylactic mastectomy
BECKWITH WEIDEMANN
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Risks and surgical procedure associated ?
1) 1:10,000
2) AD
Sporadic in 80% of cases
3) Chromosome 11p15
4) macroglossia
macrosomia
maxillary hypoplasia, class 3 malocclusion
hemihypertrophy → macrodactyly
abdominal wall defects omphalocele
hypoglycemia
Above average birth weight
5) ↑ risk of Wilm’s tumor + Hepatoblastoma
- Serial AFP + Abdominal U/S
VACTERL association
1) Incidence
2) Inheritance
3) Etiology
4) Features (VACTERL)
5) Associations ?
1) 1 in 10,000– 40,000
2) sporadic
3) None specified
4) Vertebral anomalies, Anal atresia, Cardiac defects, TE fistula, Esophageal atresia, Renal anomalies, Limb anomalies (RLD)
5) a/w Klippel-Fiel, Goldenhar, trisomy 18
BLEPHAROPHIMOSIS
BPES
1) Incidence
2) Inheritance
3) Etiology
4) Features (beti)
5) Prevention?
1) None specified
2) None specified
3) None specified
4) blepharophimosis (LPS fibrosis)
epicanthus inversus
telecanthus
inverted epicanthal fold
5) early surgery to prevent deprivational amblyopia
Neurofibromatosis
NF-I
von Recklinghausen’s disease
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Associations?
1) 1 in 3500
2) AD
3) chromosome 17
tumor sup NF1 ‘neurofibromin’
4) must have > 2 of:
1st degree relative with NF-1
> 6 café-au-lait spots (>5mm pre-puberty, >15mm post)
2 neurofibromas or 1 plexiform neurofibroma
axillary or inguinal freckling
optic gliomas
> 2 Lisch nodules (hamartoma of iris)
sphenoid wing dysplasia or anterior tibial bowing
5) 2-10% risk of malignant degeneration → MPNST (poor prognosis)
other associations: dev delay, HTN, precocious puberty, GIST tumors
Ocular findings: Optic gliomas, lisch nodules, greater wing of sphenoid dysplasia, enlargement of the eyelids, excessive ptosis, pulsating proptosis, eye pain, epiphora
NF-2
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 10x less common than NF-1
2) AD
3) chromosome 22
tumor sup NF2 ‘schwannomin’
4) bilateral CN VIII masses
1st degree relative with NF-2
and > 2 of:
neurofibroma (not plexiform)
meningioma
glioma
schwannoma
juvenile posterior subcapsular lenticular opacity
Long Face
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) None specified
2) None specified
3) None specified
4) Increased maxillary height
Appearance of long inferior 1/3
Narrow face
Gummy smile
Labial incompetence
Mentalis strain
Malocclusion class 2
Anterior open bite
Poorly defined labio-mental angle
