Mégarbané A, Le Merrer M, el Kallab K
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban, France.
Clin Dysmorphol. 1997 Jul;6(3):239-44. doi: 10.1097/00019605-199707000-00007.
We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.
我们报告了一个近亲结婚父母育有六个孩子的家庭，其中三个孩子表现出小头畸形、眼距过宽、睑裂向下倾斜、上睑下垂、鼻尖宽阔、蹼状短颈、智力障碍和癫痫发作。讨论了两种鉴别诊断，即努南综合征和巴拉伊泽 - 温特综合征。提出了描述一种新的小头畸形/智力障碍综合征的可能性。
