Truncus arteriosus and other lethal internal anomalies in Goltz syndrome

Autor:	X Y, Han, S S, Wu, D H, Conway, B R, Pawel, H H, Punnett, R A, Martin, J P, de Chadarevian
Rok vydání:	1999
Předmět:	Focal Dermal Hypoplasia Infant Newborn Humans Abnormalities Multiple Female
Zdroj:	American journal of medical genetics. 90(1)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::01c397c6d8e14f487363d3464f8d2ac9 https://pubmed.ncbi.nlm.nih.gov/10602117 Zobrazit plný text záznamu Plný text