Article
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Cytogenetic and genome research - 1 Jan 2016
Ciaccio Claudia, Dordoni Chiara, Ritelli Marco, Colombi Marina
Abstract excerpt
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Aging
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Delayed Diagnosis
- Developmental Disabilities
- Diagnostic Errors
- Ehlers-Danlos Syndrome