WARBURG MICRO SYNDROME IN TWO CHILDREN FROM A HIGHLY INBRED TURKISH FAMILY
Küçük Resim Yok
Tarih
2012
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Warburg micro syndrome in two children from a highly inbred Turkish family: 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.
Açıklama
Anahtar Kelimeler
Micro Syndrome, Cataract, Consanguinity
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
23
Sayı
2
