CRANIOSYNOSTOSIS SYNDROMES Flashcards
APERT
ACS type I
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 100,000
2) AD
3) FGFR2
mutation
4) cranium: turribrachycephaly
brain: MR
orbits: hypertelorism, exorbitism, antimongoloid slant
midface: hypoplastic, class III malocclusion
extremities: severe syndactyly of hands + feet (bilateral)
thumb clinodactyly, symphalangism (D2-5), complicated syndactyly 2+3rd web spaces
other: acne, CP, ASD, VSD, renal anomalies
Apert hand (Upton classification)
I: spade → 1st + 4th web: incomplete simple syndactyly
central mass: flat
II: spoon → 1st + 4th web: complete simple syndactyly
central mass: concave
III: rosebud → 1st web: complex syndactyly
central: thumb incorporated + synonychia
4th web: simple syndactyly + 4-5 MC fusion
CROUZON
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 50,000
2) AD
3) FGFR2 mutation
4) cranium: turribrachycephaly
brain: normal intelligence, Chiari malformation (herniation of cerebellar tonsils through foramen magnum)
orbits: hypertelorism, exorbitism, antimongoloid slant
midface: hypoplastic, beaked nose
lower face: retrogenia
extremities: normal
other (less common): C-spine, CP
PFIEFFER
‘low Apert’s’
ACS type V
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 100,000
2) AD
3) FGFR2 (95%) +
FGFR1 (5%)
mutations
4) cranium: turribrachycephaly
brain: normal intelligence
orbits: hypertelorism, exorbitism
midface: hypoplastic
extremities: broad thumbs and great toes, mild syndactyly
other: CP
Cohen classification:
I: classic (61%)
II: moderate → Kleeblattschaedel (25%)
III: severe (14%)
SAETHRE-CHOTZEN
ACS type III
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 25,000– 50,000
2) AD
3) TWIST-1 mutation
4) cranium: asymmetric brachycephaly
brain: mild MR
orbits: upper eyelid ptosis, hypertelorism, exorbitism
midface: hypoplastic
extremities: simple syndactyly
other: short stature, GU (cryptorchidism), low frontal hairline
CARPENTER
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 1 million
2) AR
3) RAB23 mutation
4) cranium: asymmetric brachycephaly
brain: MR
orbits: hypertelorism, exorbitism
midface: low set ears
extremities: simple syndactyly, pre-axial polydactyly of the feet
other: obesity, VSD/ASD, short stature
MUENKE
1) Incidence
2) Inheritance
3) Etiology
4) Features
1) 1 in 30,000
2) AD
3) FGFR3 mutation
4) cranium: bilateral > unilateral coronal synostosis
brain: dev delay
orbits: hypertelorism
midface: hypoplastic
extremities: carpal and tarsal coalitions
others: SNHL, high arched palate
