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Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

Published online by Cambridge University Press:  06 March 2012

Maria L. Dentici
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
Silvia Placidi
Affiliation:
Department of Pediatric Cardiology, University “La Sapienza”, Rome, Italy
Paola Francalanci
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
Rossella Capolino
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
Gabriele Rinelli
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
Bruno Marino
Affiliation:
Department of Pediatric Cardiology, University “La Sapienza”, Rome, Italy
Maria C. Digilio*
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
Bruno Dallapiccola
Affiliation:
Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
*
Correspondence to: M. C. Digilio, MD, Department of Medical Genetics, Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy. Tel: +39 06 68592227; Fax: +39 06 68592004; E-mail: mcristina.digilio@opbg.net

Abstract

Aim/objective

Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis.

Methods

We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes.

Results

The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy.

Conclusion

Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.

Type
Original Article
Copyright
Copyright © Cambridge University Press 2012

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