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头发稀疏、身材矮小、拇指发育不全、上颌中切牙单一以及皮肤色素沉着异常:一种可能的“新”型外胚层发育不良。

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

作者信息

Winter R M, MacDermot K D, Hill F J

机构信息

Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.

出版信息

Am J Med Genet. 1988 Jan;29(1):209-16. doi: 10.1002/ajmg.1320290127.

Abstract

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

摘要

本文描述了一个家庭,母亲和三个儿子患有一种罕见的外胚层发育异常,这种情况在医学文献中可能仅被描述过一次。该家庭的异常表现为轻度身材矮小、头皮毛发稀疏、皮肤色素沉着以及手部和手臂出现短暂的荨麻疹样反应。母亲和一个儿子有一颗上中切牙,母亲和另一个儿子有发育不全的拇指。只有母亲有手掌和足底的角化过度。遗传模式很可能是常染色体显性遗传,尽管不能排除X连锁显性遗传。

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