Pseudoachondroplasia in a child with prolapse of the mitral valve
Yükleniyor...
Dosyalar
Tarih
2001
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Cardiology in the Young
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to
severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the
gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also
had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported.
Açıklama
Anahtar Kelimeler
Short-limb dwarfism, Systemic abnormalities, Prolapse of the leaflet
Kaynak
Cardiology in the Young
WoS Q Değeri
Scopus Q Değeri
Cilt
11
Sayı
Künye
Karakurt, C. Karademir, S. Üner, Ç. (2011). Pseudoachondroplasia in a child with prolapse of the mitral valve. Cardiology in the Young. 11: 559–561.
