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Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review
Author(s) -
Scahill Michael D.,
Maak Petruska,
Kunder Christian,
Halamek Louis P.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35703
Subject(s) - omphalocele , pulmonary hypoplasia , medicine , congenital diaphragmatic hernia , hypoplasia , autopsy , diaphragmatic breathing , hernia , surgery , diaphragmatic hernia , pediatrics , fetus , pregnancy , pathology , alternative medicine , genetics , biology
Abstract The combination of congenital diaphragmatic hernia (CDH) and omphalocele is quite rare but can be seen in several syndromes. We report on a female newborn with this combination that had not been diagnosed prenatally. The patient suffered respiratory failure that persisted despite intensive care support, suggesting severe secondary pulmonary hypoplasia. Autopsy revealed the combination of an anterolateral CDH and omphalocele in the absence of other anomalies. We believe this to be the first such case to be reported in the literature. © 2013 Wiley Periodicals, Inc.