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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?

✍ Scribed by Kotzot, Dieter ;Richter, Konrad ;Gierth-Fiebig, Kornelia

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 390 KB
Volume: 50
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320500303

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✦ Synopsis

We report on 2 related children, a boy and a girl, from a large Turkish clan. Their parents are both first cousins and have several common ancestors. Both children have tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombopenia, and microcephaly, a protruding midface, rough and projecting hair, and mild mental retardation. Chromosomes are normal. Metabolic disorders were excluded. None of 14 well-known types of albinism, including Hermansky-Pudlak syndrome and Chediak-Higashi syndrome, nor any other genetic syndrome, characterizes our patients sufficiently. Thus, this combination of symptoms is considered a new autosomal recessive syndrome. o 1994 wiley-Liss, h e .

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