Thursday, December 23, 2010
10:16 PM | Posted by Shams Burki | Edit Post
A. Duodenal atresia
B. Hepatocellular carcinoma
D. Renal cysts
E. Ventricular septal defect
The correct answer is E. This clinical vignette describes a common USMLE scenario, in which the diagnosis is not asked but something related to that diagnosis is asked.
The presentation is classic for cri-du-chat syndrome, caused by a deletion of the short arm of chromosome 5(5p-). Approximately one-quarter of such patients have a ventricular septal defect. Other features of the syndrome include short stature, distorted laryngeal anatomy, profound mental retardation, microcephaly, a wide nasal bridge, and an anti-mongoloid slant to the palpebral fissures. The laryngeal malformation causes feeding and respiratory difficulties, as well as the cat-like cry, which typically disappears by age 1. Many patients survive to adulthood, but are usually institutionalized.