Mirror image duplication of the hands and feet: Report of a sporadic case with multiple congenital anomalies
| Autor: | T. V. Dela Cruz, M. Pietrantoni, M. A. Turnquest, G. von Drasek-Ascher, M. R. Joyce, Joseph H. Hersh, O. A. Yacoub |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Apical ectodermal ridge Foot Deformities Congenital Hamartoma Intellectual Disability Gene duplication Humans Parotid Gland Medicine Abnormalities Multiple Syndactyly Genetics (clinical) Genes Dominant Polydactyly business.industry Heart Septal Defects Ulna Infant Newborn Dysostosis Extremities Anatomy medicine.disease medicine.anatomical_structure Zone of polarizing activity Polysyndactyly business Hand Deformities Congenital |
| Zdroj: | American Journal of Medical Genetics. 59:341-345 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320590312 |
| Popis: | Mirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients. |
| Databáze: | OpenAIRE |
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