面部畸形：常染色体显性遗传性颅咽管瘤的一个标志。
Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
作者信息
Laing R B, Dean J C, Pearson D W, Johnston A W
机构信息
Department of Clinical Genetics, Aberdeen Royal Infirmary.
出版信息
J Med Genet. 1991 Aug;28(8):544-6. doi: 10.1136/jmg.28.8.544.
Abstract
We report a family with autosomal dominant cranial diabetes insipidus in which a characteristic facial appearance of hypertelorism, broad and prominent nasal bridge, short nose, and long philtrum is seen in affected members.
摘要
我们报告了一个常染色体显性遗传性颅咽管瘤家族，其中患病成员具有特征性的面部外观，表现为眼距增宽、鼻梁宽阔突出、鼻子短小以及人中长。
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