Tags

Type your tag names separated by a space and hit enter

Warburg micro syndrome in two children from a highly inbred Turkish family.
Genet Couns. 2012; 23(2):169-74.GC

Abstract

Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.

Authors+Show Affiliations

Department of Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey. drmselman@hotmail.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22876574

Citation

Yildirim, M S., et al. "Warburg Micro Syndrome in Two Children From a Highly Inbred Turkish Family." Genetic Counseling (Geneva, Switzerland), vol. 23, no. 2, 2012, pp. 169-74.
Yildirim MS, Zamani AG, Bozkurt B. Warburg micro syndrome in two children from a highly inbred Turkish family. Genet Couns. 2012;23(2):169-74.
Yildirim, M. S., Zamani, A. G., & Bozkurt, B. (2012). Warburg micro syndrome in two children from a highly inbred Turkish family. Genetic Counseling (Geneva, Switzerland), 23(2), 169-74.
Yildirim MS, Zamani AG, Bozkurt B. Warburg Micro Syndrome in Two Children From a Highly Inbred Turkish Family. Genet Couns. 2012;23(2):169-74. PubMed PMID: 22876574.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Warburg micro syndrome in two children from a highly inbred Turkish family. AU - Yildirim,M S, AU - Zamani,A G, AU - Bozkurt,B, PY - 2012/8/11/entrez PY - 2012/8/11/pubmed PY - 2012/8/29/medline SP - 169 EP - 74 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 23 IS - 2 N2 - Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/22876574/Warburg_micro_syndrome_in_two_children_from_a_highly_inbred_Turkish_family_ L2 - http://www.diseaseinfosearch.org/result/7440 DB - PRIME DP - Unbound Medicine ER -