Eur J Pediatr Surg 2008; 18(3): 195-197
DOI: 10.1055/s-2008-1038503
Case Report

© Georg Thieme Verlag KG Stuttgart · New York

Congenital Microgastria and Primary Ciliary Dyskinesia in a Newborn with DiGeorge Syndrome and 22q11.2 Deletion

L. Filippi1 , L. Serafini1 , P. Fiorini1 , E. Agostini1 , M. L. Giovannucci Uzielli2
  • 1Neonatal Intensive Care Unit - Department of Critical Care Medicine, “A. Meyer” University Children's Hospital, Florence, Italy
  • 2Genetics and Molecular Medicine Unit, “A. Meyer” University Children's Hospital, Florence, Italy
Further Information

Publication History

received December 19, 2007

accepted after revision February 19, 2008

Publication Date:
21 May 2008 (online)

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Abstract

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. Case Report: 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.

References

Dr. Luca Filippi

Neonatal Intensive Care Unit - Department of Critical Care Medicine
“A. Meyer” University Children's Hospital

Viale Pieraccini, 24

50134 Florence

Italy

Email: filippi.luca@virgilio.it