DiGeorge syndrome and unilateral symbrachydactyly

K Devriendt; L De Smet; K De Boeck; J P Fryns

DiGeorge syndrome and unilateral symbrachydactyly

Genet Couns. 1997;8(4):345-7.

Authors

K Devriendt¹, L De Smet, K De Boeck, J P Fryns

Affiliation

¹ Centre for Human Genetics, University Hospital Leuven, Belgium.

PMID: 9457506

Abstract

We describe a child with DiGeorge syndrome due to a del22(q11) and a symbrachydactyly of the left hand. The underlying cardiovascular malformations in DiGeorge syndrome may lead to an increased susceptibility to vascular disruptions, giving further support to the subclavian-artery-disruption-sequence theory.

Publication types

Case Reports

MeSH terms

Arm / abnormalities*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
DiGeorge Syndrome* / genetics
Hand Deformities, Congenital* / genetics
Humans
Male
Subclavian Artery / embryology