Publication
Title
Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
Author
Abstract
We report a 10-year-old male proband, born from consanguineous marriage, presenting with short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphism. Clinical, biochemical and molecular findings did not match any of the well-described connective tissue syndromes in the differential diagnosis for this specific combination of features. We presume that the phenotype presented in this patient may constitute a newly recognized syndrome of likely autosomal recessive inheritance. Clin Dysmorphol 19:119-122 (C) 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Language
English
Source (journal)
Clinical dysmorphology. - London
Publication
London : 2010
ISSN
0962-8827
Volume/pages
19 :3 (2010) , p. 119-122
ISI
000278464800002
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 24.08.2021