Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
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先天性挛缩、外胚层发育不良、唇/腭裂和发育障碍：一种独特的综合征。
DOI：
10.1002/ajmg.1320470422
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Rogan,PK
中科院分区：
文献类型：
--
作者：
Ladda,RL;Zonana,J;Ramer,JC;Mascari,MJ;Rogan,PK
兄弟患有严重的先天性挛缩、外胚层发育不良的多种皮肤表现、唇裂/腭裂以及精神运动和生长障碍。高分辨率前期染色体正常。对紧邻 X 连锁少汗性外胚层发育不良基因座的 DNA 标记的分子研究并未显示 Xq12-q13 区域亚显微缺失的证据。父母和一个正常的姐妹没有表现出这些发现。这一系列异常现象似乎代表了一种独特的 AR 或 XLR 综合症。 © 1993 Wiley-Liss, Inc.
Brother were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X‐linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12‐q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome. © 1993 Wiley‐Liss, Inc.