Variability of the de Lange syndrome: Report of 3 cases and genetic analysis of 54 families
| Autor: | S. Guttman, F.C. Fraser, H. Pashayan, Donald T. Whelan |
|---|---|
| Rok vydání: | 1969 |
| Předmět: |
Male
Hirsutism Pediatrics medicine.medical_specialty Cornelia de Lange Syndrome Autosomal recessive inheritance business.industry Infant Dwarfism medicine.disease Genetic analysis Facial Expression Intellectual Disability Karyotyping Pediatrics Perinatology and Child Health Humans Medicine Abnormalities Multiple Female Child business |
| Zdroj: | The Journal of Pediatrics. 75:853-858 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(69)80310-0 |
| Popis: | Three patients are described who have the characteristic clinical and radiologic features of the Cornelia de Lange syndrome, except that they do not have severe mental retardation. This suggests that severe mental retardation is not a necessary feature of the syndrome. The syndrome usually occurs sporadically, but there are enough families with well-documented multiple occurrences to suggest that it is familial. The hypothesis of simple autosomal recessive inheritance is rejected; the empirical risk of recurrence of the condition in siblings of an affected child is estimated to be between 2 and 5 per cent. |
| Databáze: | OpenAIRE |
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