Abdominal lymphatic dysplasia and 22q11 microdeletion

T Mansir; D Lacombe; T Lamireau; L Taine; J F Chateil; B Le Bail; J L Demarquez; M Fayon

Abdominal lymphatic dysplasia and 22q11 microdeletion

Genet Couns. 1999;10(1):67-70.

Authors

T Mansir¹, D Lacombe, T Lamireau, L Taine, J F Chateil, B Le Bail, J L Demarquez, M Fayon

Affiliation

¹ Pediatric Intensive Care Unit, Pellegrin Hospital, Bordeaux University, France.

PMID: 10191431

Abstract

We report the case of a child with 22q11 microdeletion who presented with abdominal lymphatic dysplasia resulting in exsudative enteropathy. This primitive and localized lymphatic malformation is consistent with the vascular theory in the velocardiofacial syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome / diagnosis
DiGeorge Syndrome / genetics*
DiGeorge Syndrome / pathology
Diagnosis, Differential
Follow-Up Studies
Heart Septal Defects, Ventricular / diagnosis
Heart Septal Defects, Ventricular / genetics*
Heart Septal Defects, Ventricular / pathology
Humans
Infant
Infant, Newborn
Intestinal Mucosa / pathology
Lymph Nodes / pathology
Lymphangiectasis, Intestinal / diagnosis
Lymphangiectasis, Intestinal / genetics*
Lymphangiectasis, Intestinal / pathology
Male
Phenotype*
Thoracic Duct / abnormalities
Thoracic Duct / pathology