Ultrasound assessment in a case of sialic acid storage disease

Autor:	L, Carbillon, C, Largillière, M, Bucourt, B, Scheuer-Niro, J M, Levaillant, M, Uzan
Rok vydání:	2001
Předmět:	Lysosomal Storage Diseases Fetal Diseases Pregnancy Ascites Humans Abnormalities Multiple Female N-Acetylneuraminic Acid Ultrasonography Prenatal
Zdroj:	Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 18(3)
ISSN:	0960-7692
Popis:	A woman was referred to our unit at 25 weeks' gestation because of fetal ascites. Conventional and three-dimensional ultrasound examinations revealed coarse facies and micromelia which strongly suggested storage disease, despite the absence of an index familial case. Amniocentesis was performed and, in view of the poor prognosis, the pregnancy was terminated. Autopsy confirmed all the sonographic features and the cultured amniocytes confirmed the diagnosis of infantile sialic acid storage disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::120247cf40da28bd21de93b08feba89c https://pubmed.ncbi.nlm.nih.gov/11555460 Zobrazit plný text záznamu Plný text