Meckel-Gruber syndrome: A rare and lethal anomaly.

Autor:	Kheir AE; (1) Department of Neonatology , Soba university hospital., Imam A; (2) Department of Obstetrics and Gynaecology , Soba university hospital., Omer IM; (1) Department of Neonatology , Soba university hospital., Hassan IM; (1) Department of Neonatology , Soba university hospital., Elamin SA; (1) Department of Neonatology , Soba university hospital., Awadalla EA; (1) Department of Neonatology , Soba university hospital., Gadalla MH; (1) Department of Neonatology , Soba university hospital., Hamdoon TA; (1) Department of Neonatology , Soba university hospital.
Jazyk:	angličtina
Zdroj:	Sudanese journal of paediatrics [Sudan J Paediatr] 2012; Vol. 12 (1), pp. 93-6.
Abstrakt:	Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.
Databáze:	MEDLINE
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