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 |
Externí odkaz: |
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