Review Question - QID 4611

Based on the clinical features seen in the figures provided, the most likely syndrome is that of Apert syndrome, which is consistent with a mutation in FGFR2.

Apert syndrome is an autosomal dominant condition that gives rise to facial dysmorphism and complex syndactyly of the hands. The craniosynostosis that develops causes flattening of the skull and facial features.

Goldberg et al review congenital hand conditions and the malformations associated with them. They indicate that not only does identification allow for natural history to be better elucidated, but also timing of surgical intervention can be better gauged.

Figures A and B demonstrate clinical features consistent with Apert Syndrome. The “rosebud” hand is a complex syndactyly that affects the index, middle and ring fingers most commonly. Hypertelorism is exemplified with increased distance between the eyes; additionally, acrocephaly is noted with forehead broadening and skull flattening.

Incorrect Answers

1: Mutation in sonic hedgehog gene (SHH) is associated with a longitudinal deficiency of the radius. This is seen in conditions like TAR, Holt-Oram and VACTERL syndromes.
3: Mutation in FGFR3 leads to achondroplasia
4: Mutation in PMP22 gives rise to Charcot Marie Tooth syndrome
5: Mutation in COL1A leads to osteogenesis imperfecta