Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome
| Autor: | Shirley Blaichman, Nathalie McIntosh, Vazken M. Der Kaloustian, Kenneth Silver, Fahed Halal |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Developmental Disabilities Genes Recessive Ulna Neurological disorder Developmental retardation Medicine Humans Dermatoglyphics Child Genetics (clinical) Dysmorphic facies Muscular hypotonia business.industry Generalized hypotonia fungi Anatomy Syndrome Synostosis musculoskeletal system medicine.disease eye diseases Hypotonia body regions Facial appearance Radius Phenotype Face Muscle Hypotonia Female medicine.symptom business |
| Zdroj: | American journal of medical genetics. 43(6) |
| ISSN: | 0148-7299 |
| Popis: | We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome. © 1992 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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