title: Warburg micro syndrome in two children from a highly inbred Turkish family.
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.affiliation: Department of Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey. drmselman@hotmail.com
authors.forename: M S
authors.initials: MS
authors.lastname: Yildirim
authors.forename: A G
authors.initials: AG
authors.lastname: Zamani
authors.forename: B
authors.initials: B
authors.lastname: Bozkurt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D014421:Turkey; D020692:rab3 GTP-Binding Proteins / Q000235:genetics*
chemical_list: C555465:RAB3GAP2 protein, human; D020692:rab3 GTP-Binding Proteins