The acrocallosal syndrome in a Turkish boy
| Autor: | M Yüksel, M. Çalişkan, S. Apak, G Dolunay, M. Özmen, G Oğur |
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| Rok vydání: | 1990 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics congenital hereditary and neonatal diseases and abnormalities Muscle Hypotonia Prominent forehead Fingers Consanguinity Internal medicine Intellectual Disability Genetics medicine Humans Abnormalities Multiple Hypertelorism Genetics (clinical) Psychomotor retardation Polydactyly business.industry Macrocephaly Infant Syndrome Toes Acrocallosal syndrome medicine.disease Hypotonia body regions Endocrinology Face medicine.symptom Agenesis of Corpus Callosum business Research Article |
| Zdroj: | Journal of medical genetics. 27(1) |
| ISSN: | 0022-2593 |
| Popis: | A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome. |
| Databáze: | OpenAIRE |
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