Further delineation of the acrocallosal syndrome
| Autor: | J. Chemke, Z. Gelman-Kohan, H. Adar, H. Ankori-Cohen, J. Antonelli |
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| Rok vydání: | 1991 |
| Předmět: |
Male
Genetics Autosomal recessive inheritance business.industry Infant Syndrome Consanguinity Corpus callosum medicine.disease Acrocallosal syndrome Facial Bones Pedigree Phenotype Parental consanguinity Polysyndactyly Pediatrics Perinatology and Child Health Humans Medicine Abnormalities Multiple Female Syndactyly Agenesis of Corpus Callosum Craniofacial business Intrafamilial variability |
| Zdroj: | European Journal of Pediatrics. 150:797-799 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf02026715 |
| Popis: | The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and mental retardation. The inheritance is autosomal recessive, based on instances of recurrence in siblings and cousins and parental consanguinity. A large inbred kindred with recurrent ACS is presented. This family further strengthens the hypothesis of autosomal recessive inheritance for this syndrome. The array of clinical manifestations in this sibship and those previously reported exemplify the phenomenon of inter- and intrafamilial variability that must be considered when defining ACS. Based on a review of published reports and the present family, essential, additional and occasional findings are distinguished. Attention is drawn to geographical clustering of the families. |
| Databáze: | OpenAIRE |
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