Case report: a black and white twin
| Autor: | A Timmermans, H W Bruinse, M J Claas |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Superfecundation
medicine.medical_specialty Black People Melanin Young Adult Diseases in Twins Twins Dizygotic medicine Humans Genetic testing White (horse) integumentary system medicine.diagnostic_test business.industry Infant Newborn Membrane Transport Proteins Obstetrics and Gynecology medicine.disease Dermatology Oculocutaneous albinism eye diseases Albinism Oculocutaneous Mutation Pediatrics Perinatology and Child Health Albinism Female sense organs Skin cancer business Negroid |
| Zdroj: | Journal of Perinatology. 30:434-436 |
| ISSN: | 1476-5543 0743-8346 |
| DOI: | 10.1038/jp.2009.156 |
| Popis: | Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negroid origin who delivered dichorial diamniotic twins: two daughters were born with a totally different appearance. The first child had a light brown skin, black curly hair and brown eyes, whereas the second had a striking white skin, red-blond curly hair and blue eyes. Oculocutaneous albinism (OCA) and heteropaternal superfecundation were considered in the differential diagnosis. Genetic testing confirmed the diagnosis of OCA type 2 in the second child. The diagnosis of albinism has clinical implications and must be considered when a black and white twin is born. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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