New syndromic entity of situs inversus totalis

被引：0

作者：

Mubashir, MA

Sabry, MA

Farah, S

Haseeb, N

Quasrawi, B

Al-Busairi, W

Al-Dabbous, R

Al-Awadi, SA

Farag, TI

机构：

[1] Matern Hosp, Ctr Med Genet, Safat, Kuwait

[2] IbnSina Hosp, Dept Neurol, Safat, Kuwait

[3] Dalhousie Univ, Halifax, NS, Canada

来源：

CLINICAL DYSMORPHOLOGY | 1999年 / 8卷 / 01期

关键词：

situs inversus totalis; MCA/MR; Facio-Cerebro-Skeleto-Cardiac syndrome; FCSCSI;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly; situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype. Clin Dysmorphol 8: 23-27 (C) 1999 Lippincott Williams & Wilkins.

引用

页码：23 / 27

页数：5

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