Mégarbané A, Cormier-Daire V
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.
Am J Med Genet. 2001 Aug 1;102(2):153-6. doi: 10.1002/ajmg.1429.
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.
我们描述了两名患有身材矮小、肥胖、鼻尖呈“球状”、小颌后缩、短指畸形、关节过度松弛和脱位以及智力发育迟缓的姐妹。骨骼检查发现下颌角增宽、颞突变薄、锁骨发育不全、尺骨远端短、第四掌骨短以及髋、肘和拇指脱位。父母是近亲。据我们所知，这种多种先天性异常与智力发育迟缓的组合此前尚未见报道。
