CLEFT SYNDROMES Flashcards
PIERRE ROBIN SEQUENCE
a/w syndromes (30%): Stickler, VCF, Treacher Collins, Nager
1) Incidence?
2) Inheritance?
3) Etiology?
4) Features?
5) Others?
1) 1 in 5000
2) sporadic
3) micrognathia
4) micrognathia (body), glossoptosis, upper airway obstruction
+ U-shaped CP
airway: laryngomalacia
ears: CHL, OM, auricular deformities
feeding difficulty: CP, abN anatomy, poor neuromuscular control of tongue
5) airway: prone, NPA, CPAP, TLA, FoM release, trach, DO
sleep study
feeding difficulty: Haberman nipple, feed at 45o, conc. formula, KF or G-tube
speech: CP repair
ears: BMAT
micrognathia: catch up growth, or orthognathic surgery
STICKLER
m/c syndromic CP (25%)
1) Incidence?
2) Inheritance?
3) Etiology?
4) Features?
1) 1 in 10,000
2) AD
incomplete penetrance
3) type II collagen mutation
4) eye: myopia, strabismus, detached retina, cataracts, glaucoma
face: hypoplastic mandible, flat midface + nose, long philtrum
CP + PRS
ears: progressive SNHL
MSK: arthropathies
VELOCARDIOFACIAL
Shprintzen’s
15% syndromic CP
1) Incidence?
2) Inheritance?
3) Etiology?
4) Features?
5) Tx? Others?
1) 1 in 2000
2) AD
incomplete penetrance
3) 22q11 deletion
Dx by FISH
4) CNS: MR, seizures, microcephaly
CF: CP, VPI, vertical maxillary excess, broad nasal dorsum, prominent radix, bulbous nasal tip, narrow alar base, class II malocclusion, malar hypoplasia
Ears: cup ear
CV: tetralogy of Fallot, VSD
MSK: hyperextensible digits
medial displacement of ICA’s (25%) risk during pharyngeal flap
5) cardiology consult
CP repair
MRA or CTA prior to VPI surgery
orthognathic surgery
DiGeorge’s (10%): CATCH-22: cardiac anomalies, abnormal facies, thymic aplasia, CP, hypocalcemia, hypoPTH
VAN DER WOUDE
m/c syndromic CL/P (19%)
1) Incidence?
2) Inheritance?
3) Etiology?
4) Features?
1) 1 in 100,000
2) AD
3) 1q32-41
4) CL/P (19%), bifid uvula
bilateral lower lip pits
hypodontia - absent 2nd molars, or other teeth
WAARDENBERG
(7%)
1) Incidence?
2) Inheritance?
3) Etiology?
4) Features?
5) Other info?
1) None specified
2) AD
3) defect of neural crest cell migration + melanin synth
4) CL/P
SNHL
telecanthus
isohypochromia iridis (pale blue iris) or different colored irises
absence of melanocytes - vitiligo
white forelock
5) WS I-V
WS III: MSK abnormalities
