✦ LIBER ✦

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome

✍ Scribed by Han, Xiang Y.; Wu, Sandy S.; Conway, Daniel H.; Pawel, Bruce R.; Punnett, Hope H.; Martin, Rick A.; de Chadarevian, Jean-Pierre

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 22 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000103)90:1<45::aid-ajmg9>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

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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