RAPADILINO syndrome - a non-Finnish case

被引：13

作者：

Kant, SG

Baraitser, M

Milla, PJ

Winter, RM

机构：

[1] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RA Leiden, Netherlands

[2] Hosp Sick Children, Dept Paediat Gastroenterol, London WC1N 1EH, England

[3] Inst Child Hlth, Mothercare Unit Clin Genet, London WC1N 1EH, England

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 02期

关键词：

RAPADILINO; radial aplasia; patellar aplasia; short stature;

D O I：

10.1097/00019605-199804000-00011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The patient developed a poikilodermatous skin rash, suggesting overlap with the Rothmund-Thompson syndrome. (C) Chapman & Hall Ltd.

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收藏

页码：135 / 138

页数：4

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