小头畸形、身材矮小和先天性髋关节脱位的显性遗传。
Dominant inheritance of microcephaly, short stature and congenital dislocation of the hips.
作者信息
Newbury-Ecob R A, Young I D
机构信息
Department of Clinical Genetics, City Hospital, Nottingham, UK.
出版信息
Clin Dysmorphol. 1993 Jan;2(1):34-8.
PMID:8298736
Abstract
A family showing dominant inheritance of microcephaly, short stature, congenital dislocation of the hips and dysmorphic features is described. Affected individuals have malar hypoplasia, prominent nasal root, beaked nose, short philtrum and simple ears. This facial appearance is very similar to that in the family reported by Bawle and Horton in 1989.
摘要
描述了一个小头畸形、身材矮小、先天性髋关节脱位和畸形特征呈显性遗传的家系。受影响个体有颧骨发育不全、鼻根突出、喙状鼻、人中短和耳形简单。这种面部外观与1989年Bawle和Horton报道的家系非常相似。
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