Congenital microgastria and primary ciliary dyskinesia in a newborn with DiGeorge syndrome and 22q11.2 deletion.
BACKGROUND
Congenital microgastria is an uncommon result of impairment of normal foregut development and rotation during early embryology. Only about 50 cases have been reported in the literature, mostly associated with other multiple congenital anomalies.


METHODS
The case of a female newborn with multiple abnormalities, including cardiovascular malformation (type I truncus arteriosus communis) with deletion of chromosome 22q11.2, severe immunodeficiency (DiGeorge syndrome), microgastria, and impaired mucociliary function (primary ciliary dyskinesia) is reported.


CONCLUSIONS
An association between the deletion of chromosome 22q11.2, microgastria, and impaired mucociliary function has never been observed before. A casual association seems highly unlikely and we can not exclude the possibility of genetic mechanisms that may link those syndromes.
Filippi
L
L
Neonatal Intensive Care Unit - Department of Critical Care Medicine, A. Meyer University Children's Hospital, Florence, Italy. filippi.luca@virgilio.it
Serafini
L
L
Fiorini
P
P
Agostini
E
E
Giovannucci Uzielli
M L
ML
D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics*; D004065:Digestive System Abnormalities / Q000150:complications; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications; D013270:Stomach / Q000002:abnormalities*