Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Autor:	M B, Irons, D W, Bianchi, R L, Geggel, G R, Marx, I, Bhan
Rok vydání:	1996
Předmět:	Male Child Preschool Infant Newborn Facies Humans Infant Abnormalities Multiple Genes Recessive Lymphedema Syndrome Heart Septal Defects Atrial Testicular Hydrocele
Zdroj:	American journal of medical genetics. 66(1)
ISSN:	0148-7299
Popis:	We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9ad2641f31bcf0e112582045ed64b1ec https://pubmed.ncbi.nlm.nih.gov/8957515 Zobrazit plný text záznamu Plný text