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一个家族中的裂手/裂足畸形与LADD综合征:EEC综合征和LADD综合征之间的重叠

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

作者信息

Lacombe D, Serville F, Marchand D, Battin J

机构信息

Department of Paediatrics and Medical Genetics, Pellegrin-Children's Hospital, Bordeaux, France.

出版信息

J Med Genet. 1993 Aug;30(8):700-3. doi: 10.1136/jmg.30.8.700.

Abstract

A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

摘要

据报道,一对母女患有明显不同的综合征。母亲患有裂手/裂足畸形,而女儿的病情符合LADD综合征的诊断。无腭裂以及唾液和泪液形成不足是将LADD综合征与EEC综合征区分开来的主要体征。然而,这两种常染色体显性疾病之间没有恒定的明显特征,它们表现出很大的表型变异性。本报告强调了LADD综合征和EEC综合征之间的重叠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0799/1016505/a7238fe9eab5/jmedgene00010-0078-a.jpg

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