患有青光眼、智力发育迟缓及身材矮小的兄弟姐妹。
Siblings with glaucoma, mental retardation and short stature.
作者信息
AlKaissi Ali, Hammou Aza, Ghachem Maher Ben, Nacib Mohamed Nabil, Chehida Farid Ben, Karoui Hager, Baraitser Michael
机构信息
Department of Paediatric Orthopaedics, Hopital d'infants, Tunis.
出版信息
Clin Dysmorphol. 2003 Jul;12(3):191-4. doi: 10.1097/01.mcd.0000077564.66911.0a.
Abstract
We report a sibling pair, whose parents are distantly related, with congenital glaucoma and mental retardation. There are similarities to ter Haar syndrome, but severe mental retardation has not been described previously in that condition.
摘要
我们报告了一对同胞兄妹，其父母为远亲，他们患有先天性青光眼和智力发育迟缓。这与特尔·哈尔综合征有相似之处，但此前在该病症中尚未有严重智力发育迟缓的描述。
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