一种具有特殊面容、手指异常和鱼鳞病的新型隐性综合征。
A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
作者信息
Clayton-Smith J, Donnai D
机构信息
Department of Medical Genetics, St Mary's Hospital, Manchester.
出版信息
J Med Genet. 1989 May;26(5):339-42. doi: 10.1136/jmg.26.5.339.
Abstract
Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.
摘要
据报道，有两名同胞具有相似的异常面部特征、肢体畸形和出生后出现鱼鳞病的情况。父母是近亲，两人均未表现出该病症的任何体征。鱼鳞病的存在表明该综合征可能存在代谢成分。鉴于近亲关系和畸形模式，常染色体隐性遗传似乎很有可能。
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