A case of Marden-Walker syndrome with Dandy-Walker malformation
Küçük Resim Yok
Tarih
1995
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging. Copyright © 1995, Wiley Blackwell. All rights reserved
Açıklama
Anahtar Kelimeler
Dandy Walker malformation, Marden Walker syndrome, MRI
Kaynak
Clinical Genetics
WoS Q Değeri
Scopus Q Değeri
Q1
Cilt
47
Sayı
4
