1.
Clin Dysmorphol
; 8(1): 23-7, 1999 Jan.
Article
in English
| MEDLINE
| ID: mdl-10327248
ABSTRACT
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.