Article
Early fetal presentation of Koolen-de Vries: Case report with literature review.
European journal of medical genetics - 1 Nov 2017
Sauvestre Fanny, Marguet Florent, Rooryck Caroline, Vuillaume Marie-Laure, Cardinaud Frédéric, Laquerrière Annie, André Gwenaëlle, Pelluard Fanny
Abstract excerpt
Koolen-de Vries syndrome (MIM#610443) is a rare microdeletion syndrome involving the 17q21.31 region, which was first described by Koolen in 2006. Clinical and behavioral characteristics have been extensively reported from more than 100 postnatal cases including infants, children and young adults. The syndrome is highly clinically heterogeneous, but the main features associate characteristic cranio-facial...
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Corpus Callosum
- Female
- Humans
- Intellectual Disability
- Phenotype
- Pregnancy
- Ultrasonography, Prenatal