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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Am J Med Genet. 1994 Apr 15; 50(3):224-7.AJ

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.

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Authors+Show Affiliations

Kotzot D
Institute of Human Genetics, University of Erlangen, Germany.
Richter K
No affiliation info available
Gierth-Fiebig K
No affiliation info available

MeSH

Abnormalities, MultipleAlbinism, OculocutaneousChildConsanguinityEarFemaleGenes, RecessiveHumansImmunologic Deficiency SyndromesInfantIntellectual DisabilityIrisMaleMicrocephalyPedigreeSyndromeThrombocytopenia

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8042664

Citation

Kotzot, D, et al. "Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies: a New Autosomal Recessive Syndrome?" American Journal of Medical Genetics, vol. 50, no. 3, 1994, pp. 224-7.
Kotzot D, Richter K, Gierth-Fiebig K. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? Am J Med Genet. 1994;50(3):224-7.
Kotzot, D., Richter, K., & Gierth-Fiebig, K. (1994). Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? American Journal of Medical Genetics, 50(3), 224-7.
Kotzot D, Richter K, Gierth-Fiebig K. Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies: a New Autosomal Recessive Syndrome. Am J Med Genet. 1994 Apr 15;50(3):224-7. PubMed PMID: 8042664.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? AU - Kotzot,D, AU - Richter,K, AU - Gierth-Fiebig,K, PY - 1994/4/15/pubmed PY - 1994/4/15/medline PY - 1994/4/15/entrez SP - 224 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 50 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8042664/Oculocutaneous_albinism_immunodeficiency_hematological_disorders_and_minor_anomalies:_a_new_autosomal_recessive_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=50&issue=3&spage=224 DB - PRIME DP - Unbound Medicine ER -