Rhizomelic chondrodysplasia punctata: A case report
Küçük Resim Yok
Tarih
2004
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses, rhizomelic shortening of the long bones, flexion contractures, saddle nose, hypertelorism, cataract, frontal bossing, and severe mental and motor retardation. This type is the most severe and rare form of chondrodysplasia punctata. We present a newborn who manifested the characteristic clinical and radiologic findings of rhizomelic type chondrodysplasia punctata.
Açıklama
Anahtar Kelimeler
Cataract, Chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata
Kaynak
Cocuk Sagligi ve Hastaliklari Dergisi
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
47
Sayı
1
