Weismann-Netter-Stuhl Syndrome: A Family Report
Yükleniyor...
Dosyalar
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members.
Açıklama
Anahtar Kelimeler
Femur involvement, Radiography, Weismann-Netter-Stuhl syndrome
Kaynak
Jcrpe Journal of Clinical Research in Pediatric Endocrinology
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
1
Sayı
4
Künye
Alp, H., Atabek, M. E., Pirgon, Ö., (2009). Weismann-Netter-Stuhl Syndrome: A Family Report. Jcrpe Journal of Clinical Research in Pediatric Endocrinology, 1(4), 194-196. Doi: 10.4008/jcrpe.v1i4.45
