New syndromic entity of situs inversus totalis

Authors
Mubashir, MA Sabry, MA Farah, S Haseeb, N Quasrawi, B Al-Busairi, W Al-Dabbous, R Al-Awadi, SA Farag, TI
Citation
Ma. Mubashir et al., New syndromic entity of situs inversus totalis, CLIN DYSMOR, 8(1), 1999, pp. 23-27
Citations number
7
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
23 - 27
Database
ISI
SICI code
0962-8827(199901)8:1<23:NSEOSI>2.0.ZU;2-6
Abstract
A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dy smorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydact yly; situs inversus totalis, and MRI findings of cerebellar/midbrain migrat ion defects. The described phenotype represents a new syndromic situs inver sus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype. Clin Dys morphol 8: 23-27 (C) 1999 Lippincott Williams & Wilkins.