Cornelia de Lange syndrome – a rarely seen disorder

Autor:	Nilay Pişinpaşa, Tülay Tos, Yasemin Çekmez
Rok vydání:	2015
Předmět:	Pediatrics medicine.medical_specialty Microcephaly Fetus Cornelia de Lange Syndrome business.industry lcsh:R Genetic disorder lcsh:Medicine Obstetrics and Gynecology medicine.disease lcsh:Gynecology and obstetrics Intrauterine death medicine Genetic diagnosis business lcsh:RG1-991
Zdroj:	South African Journal of Obstetrics and Gynaecology, Vol 21, Iss 2, Pp 52-53 (2015)
ISSN:	2305-8862 0038-2329
Popis:	Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected children as a result of mosaicism. The syndrome has been diagnosed antenatally by careful ultrasound examination, but is usually only diagnosed after birth. We report the case of a patient admitted to our clinic with intrauterine death of the fetus. CdLS was diagnosed on the basis of multiple structural abnormalities seen after delivery.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578a87a7b1cb6a72eaac97d76989f947 https://doi.org/10.7196/sajog.890 Zobrazit plný text záznamu Plný text ve formátu PDF