Truncus arteriosus and other lethal internal anomalies in Goltz syndrome
Department of Pathology and Laboratory Medicine, MCP Hahnemann University School of Medicine, and St. Christopher's Hospital for Children, Philadelphia, PA 19134, USA. American Journal of Medical Genetics
(Impact Factor: 3.23).
An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.
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