Scopus
Warburg micro syndrome in two children from a highly inbred Turkish family
Genetic Counseling · Ağustos 2012
Makale Bilgileri
DergiGenetic Counseling
Yayın TarihiAğustos 2012
Cilt / Sayfa23 · 169-174
Scopus ID2-s2.0-84864459541
Özet
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.
Yazarlar (3)
1
M. S. Yildirim
2
A. Zamani
3
Banu Bozkurt
ORCID: 0000-0002-9847-3521
Anahtar Kelimeler
Cataract
Consanguinity
Micro syndrome
Kurumlar
Necmettin Erbakan Üniversitesi
Meram Turkey
Selçuk Üniversitesi
Selçuklu Turkey
Metrikler
5
Atıf
3
Yazar
3
Anahtar Kelime