Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?

Autor:	M, Berkenstadt, D, Lev, R, Achiron, M, Rosner, G, Barkai
Rok vydání:	1999
Předmět:	Adult Hernia Diaphragmatic Mothers Syndrome Fetus Pregnancy Jews Prenatal Diagnosis Humans Microphthalmos Abnormalities Multiple Female Hernias Diaphragmatic Congenital Lung Ultrasonography
Zdroj:	American journal of medical genetics. 86(1)
ISSN:	0148-7299
Popis:	We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a97e030e935160dbf272670bcdf6d23c https://pubmed.ncbi.nlm.nih.gov/10440821 Zobrazit plný text záznamu Plný text