Meckel Gruber syndrome: a case diagnosed in utero.
A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a previous malformed stillborn with anencephaly, meningomyelocele, polydactyly and ambiguous genitalia. This was the first prenatally diagnosed case ever reported in Turkey. The clinical, computed tomography and postmortem findings and the related literature are reviewed.
Balci
S
S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Onol
B
B
Erçal
M D
MD
Beksaç
S
S
Erzen
C
C
Akhan
O
O
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002490:Central Nervous System / Q000002:abnormalities*; D003616:Dandy-Walker Syndrome / Q000150:complications; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome