Suppr超能文献

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

作者信息

Gillis R, Klar A, Gross-Kieselstein E

机构信息

Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.

出版信息

Clin Genet. 1990 Nov;38(5):378-81. doi: 10.1111/j.1399-0004.1990.tb03599.x.

Abstract

The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome. This is the fifth reported case of this syndrome in a non-Japanese patient, and the second reported case in a patient of Arab descent.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验