| Literature DB >> 20508632 |
M J Claas1, A Timmermans, H W Bruinse.
Abstract
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.Entities:
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Year: 2010 PMID: 20508632 DOI: 10.1038/jp.2009.156
Source DB: PubMed Journal: J Perinatol ISSN: 0743-8346 Impact factor: 2.521