Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Autor:	L C, Adès, R, Davies, E A, Haan, K J, Holman, K C, Watson, D, Sreetharan, S N, Cao, D M, Milewicz, J F, Bateman, A A, Chiodo, M, Eccles, L, McNoe, M, Harbord
Rok vydání:	1999
Předmět:	Male Adolescent Microfilament Proteins Iris Aorta Thoracic Toes Fibrillins Aortic Aneurysm Fingers Aortic Dissection Karyotyping Humans Abnormalities Multiple Collagen Polymorphism Single-Stranded Conformational
Zdroj:	Clinical dysmorphology. 8(4)
ISSN:	0962-8827
Popis:	We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::10bf952d1d821fc6ed68b76d429c6903 https://pubmed.ncbi.nlm.nih.gov/10532176 Zobrazit plný text záznamu