Abdominal lymphatic dysplasia and 22q11 microdeletion.
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.
Mansir
T
T
Pediatric Intensive Care Unit, Pellegrin Hospital, Bordeaux University, France.
Lacombe
D
D
Lamireau
T
T
Taine
L
L
Chateil
J F
JF
Le Bail
B
B
Demarquez
J L
JL
Fayon
M
M
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D008201:Lymphangiectasis, Intestinal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D010641:Phenotype; D013897:Thoracic Duct / Q000002:abnormalities / Q000473:pathology