A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome

被引：10

作者：

David, G

Sillence, D

Hardwick, R

Opitz, JM

机构：

[1] Childrens Hosp, Acad Dept Med Genet, Dept Clin Genet, Westmead, NSW 2145, Australia

[2] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia

[3] Univ Utah, Dept Pediat, Salt Lake City, UT 84112 USA

[4] Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA

[5] Univ Utah, Dept Obstet & Gynecol, Salt Lake City, UT 84112 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 130A卷 / 04期

关键词：

Opitz trigonocephaly syndrome; Kabuki syndrome; craniosynostosis;

D O I：

10.1002/ajmg.a.20599

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a 2-year-old boy with overlapping manifestations of the Kabuki (Niikawa-Kuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant skin folds at the back of the neck, ventricular septal defect, broad flat thumbs, bilateral single palmar creases, left talipes equinovarus, eventration of right hemidiaphragm, and bilateral inguinal hernia. However, as he grew older, his facial profile changed to that typical of Kabuki syndrome. (C) 2004 Wiley-Liss, Inc.

引用

页码：389 / 392

页数：4

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