Introduction Syndrome characterized by bilateral complex syndactyly of hands and feet index, middle, and ring fingers most affected symphalangism premature fusion of cranial sutures (craniosynostosis) results in flattened skull and broad forehead (acrocephaly) hypertelorism (increased distance between paired body parts, as in wide set eyes) normal to moderately disabled cognitive function glenoid hypoplasia radioulnar synostosis Genetics autosomal dominant, but most new cases are sporadic mutation of FGFr2 gene Epidemiology incidence is 1/80,000 live births Prognosis spectrum of normal to moderately disabled cognitive function Presentation Physical exam dysmorphic face craniosynostosis results in flattened skull and facial features rosebud hands (complex syndactyly where the index, middle, and ring finger share a common nail) Imaging Radiographs will show complex syndactyly Treatment Operative surgical release of border digits indications perform ~ 1 year of age digit reconstruction indications perform ~ 1.5 years of age to convert central three digits into two digits
QUESTIONS 1 of 3 1 2 3 Previous Next (OBQ12.251) An infant is brought to your office for evaluation of his hands. Clinical photos are shown in Figures A and B. The clinical features are most consistent with a genetic mutation in which of the following: Review Topic QID: 4611 FIGURES: A B 1 Sonic Hedgehog (SHH) 34% (1250/3696) 2 FGFR2 40% (1475/3696) 3 FGFR3 12% (460/3696) 4 PMP22 7% (259/3696) 5 COL1A1 6% (222/3696) ML 5 Select Answer to see Preferred Response PREFERRED RESPONSE 2 (OBQ07.142) Apert's syndrome is caused by a mutation in what gene? Review Topic QID: 803 1 Fibroblast growth factor receptor 2 (FGFR2) 68% (840/1236) 2 Fibroblast growth factor receptor 3 (FGFR3) 10% (120/1236) 3 Collagen type II alpha 1 chain (COL2A1) 11% (139/1236) 4 SED late (SEDL) 8% (98/1236) 5 Fibrillin 2% (29/1236) ML 3 Select Answer to see Preferred Response PREFERRED RESPONSE 1 (OBQ10.247) A 4-year-old child has flattened facial features, wide set eyes, and the hand deformity pictured in Figure A. Which of the following is the most likely diagnosis? Review Topic QID: 3346 FIGURES: A 1 Apert's syndrome 77% (2079/2705) 2 Multiple epiphyseal dysplasia 1% (37/2705) 3 Cleidocranial dysplasia 11% (298/2705) 4 Noonan syndrome 9% (232/2705) 5 Achondroplasia 1% (34/2705) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 1