Arterial tortuosity syndrome case report
Küçük Resim Yok
Dosyalar
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Genet Couns
Erişim Hakkı
info:eu-repo/semantics/embargoedAccess
Özet
Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare autosomal recessive condition characterized by dysmorphic features, elongation, tortuosity, and aneurysm of the large and middle sized arteries. We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. Based on angiogram, a diagnosis of ATS was made and subsequently confirmed by a homozygous one base-pair deletion at position g.318 of SLCA10. We stress similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis laxa, both being connective tissue disorders disorganizing the elastin network.
Açıklama
Anahtar Kelimeler
Kaynak
Genet Couns
WoS Q Değeri
Scopus Q Değeri
Cilt
23
Sayı
4
Künye
Karakurt, C. Koçak, G. Elkıran, Ö. Coucke; PJ. Van Maldergem; L. (2012). Arterial tortuosity syndrome case report. Genet Couns. 23(4):477-482.
