Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.
Author: Mégarbané A, Cormier Daire V.
Source:
American journal of medical genetics, 102(2), 153-156.
We describe two sisters with short stature, obesity, "bulbous" nasal tip,
microretrognathism, brachydactyly, joint hyperlaxity and dislocation, and mental
retardation. Skeletal surveys disclosed widened mandibular angles, thin temporal
processes, hypoplastic clavicles, short distal ends of ulnae, short fourth
metacarpals, and dislocation of hips, elbows, and thumbs. The parents are first
cousins. To the best of our knowledge, this combination of multiple congenital
anomalies and mental retardation has not been reported before