Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution
| Autor: | V. Chavez, Susana Kofman-Alfaro, N. Sastré, M. Aguinaga, M. R. Rivera, J. C. Zenteno |
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| Rok vydání: | 2008 |
| Předmět: |
Male
musculoskeletal diseases medicine.medical_specialty Ectrodactyly Adolescent Triphalangeal thumb Thumb Familial case Genetics Humans Medicine Syndactyly Genetics (clinical) Geography Polydactyly business.industry Brachydactyly Syndrome Anatomy medicine.disease Dermatology Pedigree Radiography body regions Geographic distribution medicine.anatomical_structure Female business |
| Zdroj: | Clinical Genetics. 50:152-155 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1996.tb02371.x |
| Popis: | A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome is described. The proposita, a 17-year-old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disease (brachydactyly and nail dysplasia). This is the fourth familial case reported in the literature with the triphalangeal thumb and brachyectrodactyly complex and the third of Mexican origin, reflecting a geographical predominance in the occurrence of this uncommon pathology. |
| Databáze: | OpenAIRE |
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