两名同胞出现先天性全身性脱发、智力缺陷和小头畸形。
Congenital universal alopecia, mental deficiency, and microcephaly in two sibs.
作者信息
Pfeiffer R A, Völklein J
出版信息
J Med Genet. 1982 Oct;19(5):388-9. doi: 10.1136/jmg.19.5.388.
Abstract
A brother and sister are reported who had congenital universal atrichosis, microcephaly, and mental retardation. Similar observations representing a rare nosological group are summarised. Heterogeneity is suggested. The pathogenesis of the individual syndromes is unknown.
摘要
据报道，有一对兄妹患有先天性全身性无毛症、小头畸形和智力发育迟缓。本文总结了代表罕见病种分类组的类似观察结果。提示存在异质性。各综合征的发病机制尚不清楚。
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