New syndromic entity of situs inversus totalis

Autor: M A, Mubashir, M A, Sabry, S, Farah, N, Haseeb, B, Quasrawi, W, al-Busairi, R, al-Dabbous, S A, al-Awadi, T I, Farag
Rok vydání: 1999
Předmět:
Zdroj: Clinical dysmorphology. 8(1)
ISSN: 0962-8827
Popis: 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.
Databáze: OpenAIRE