title: Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
abstract: 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.
authors.affiliation: Institute of Human Genetics, University of Erlangen, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: K
authors.initials: K
authors.lastname: Richter
authors.forename: K
authors.initials: K
authors.lastname: Gierth-Fiebig
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*