Megarbane Syndrome

Megarbane et al. (2001) reported 2 brothers, whose parents were first-cousin Iraqi Muslims, with short stature, abnormal face (flat nasal bridge, beaked nose, bilateral ptosis, flat philtrum), joint laxity and dislocation, hernias, delayed bone age, and severe psychomotor retardation. In both boys, talipes equinovarus was noted at birth and was treated surgically at the age of 18 months. The authors suggested that this multiple congenital anomaly/mental retardation (MCA/MR) syndrome was most likely an autosomal recessive disorder.