[Roberts-SC phocomelia syndrome]
| Autor: | D A, Musfeld, E M, Bühler, S, Heinzl |
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| Jazyk: | němčina |
| Rok vydání: | 2001 |
| Předmět: | |
| Zdroj: | Gynakologisch-geburtshilfliche Rundschau. 41(1) |
| ISSN: | 1018-8843 |
| Popis: | The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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