Monday, June 24, 2013


Most cases of this autosomal dominant disease are sporadic. Patients have strabismus, hearing loss, and acne vulgaris. Birth weight and length are above the 50th percentile, though linear growth slows during childhood.

Challenge: What's your diagnosis?

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1 comment:

Craig Chen said...


This is Apert syndrome, a syndromic craniosynostosis (premature fusion or growth arrest at one of the cranial sutures) from a mutation in fibroblast growth factor receptor 2. Note the bicoronal synostosis and maxillary hypoplasia giving a flat, recessed forehead and flat midface. Patients also have exorbitism, hypertelorism, a laterally down-sloping slant, low-set ears, and abnormally small, flat nasal structure. Oral exam shows a high arched palate and class 3 malocclusion.

Sources: UpToDate; Wikipedia.