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[伴有唇瘘和隐性腭裂的家族综合征]

[Familial syndrome with lip fistulas and microforms of cleft velum].

作者信息

Hardt N

出版信息

Dtsch Zahnarztl Z. 1977 May;32(5):413-7.

PMID:266463
Abstract

Four siblings are reported who have congenital fistulae of their lower lips (with one exception) associated with bifid uvula and partial manifestations of submucous cleft palate, while their mother has a bilateral cleft lip and palate as well as bilateral fistulae of the lip. The malformation is possibly transmitted as an autosomal dominant trait. This special type of hereditary combination is not mentioned in the literature, as far as we know, and appears to be a very rare clinical variation of the syndrome normally associated with clefts of lip and palate and fistulae of the lip.

摘要

据报道,有四个兄弟姐妹(其中一人除外)下唇患有先天性瘘管,伴有悬雍垂裂和黏膜下腭裂的部分表现,而他们的母亲患有双侧唇腭裂以及双侧唇瘘。这种畸形可能作为常染色体显性性状遗传。据我们所知,这种特殊类型的遗传组合在文献中未被提及,似乎是通常与唇腭裂和唇瘘相关综合征的一种非常罕见的临床变异。

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