上睑下垂、睑裂向下倾斜、眼距过宽、癫痫发作和智力障碍：一种可能的新的MCA/MR综合征。
Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
作者信息
Mégarbané A, Le Merrer M, el Kallab K
机构信息
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban, France.
出版信息
Clin Dysmorphol. 1997 Jul;6(3):239-44. doi: 10.1097/00019605-199707000-00007.
Abstract
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.
摘要
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。
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