Publication
Title
Mesomelic dysplasia with specific autopodal synostoses : a third observation and further delineation of the multiple congenital anomaly syndrome
Author
Abstract
We report on a 4-year-old boy with a multiple congenital anomaly syndrome comprising symmetric carpometacarpal and tarsometatarsal synostoses and moderate acromesomelia. Because both the anatomy and function in elbows, knees, and ankles were adversely affected, mobility in the upper limbs and gait were seriously impaired. Other important components of the syndrome included eyelid ptosis, hypoplastic soft palate and uvula, atrial septal defect, ventricular septal defect, coarctation of the aorta, and bilateral hydronephrosis due to congenital vesicoureteral junction stenosis. The stature was in the low normal range and the mental development normal. Only two observations of a similar set of malformations previously have been reported. This pleiotropic syndrome, most probably an autosomal dominant trait, is apparently the phenotypic result of a single gene mutation disturbing antenatal pattern formation, more specifically distal limb segmentation and joint differentiation.
Language
English
Source (journal)
Pediatric pathology & molecular medicine. - Abingdon
Publication
Abingdon : 2003
ISSN
1522-7952
Volume/pages
22:1(2003), p. 23-35
ISI
000180114700004
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 06.06.2012
Last edited 06.07.2017