OCULOCUTANEOUS ALBINISM, IMMUNODEFICIENCY, HEMATOLOGICAL DISORDERS, AND MINOR ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME

We report on 2 related children, a boy and a girl, from a large Turkis h clan. Their parents are both first cousins and have several common a ncestors. Both children have tyrosinase-positive oculocutaneous albini sm, recurrent bacterial infections, granulocytopenia, intermittent thr ombopenia, and microcephaly, a protruding midface, rough and projectin g hair, and mild mental retardation. Chromosomes are normal. Metabolic disorders were excluded. None of 14 well-known types of albinism, inc luding 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. (C) 1994 Wiley-Liss, Inc.