title: Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.
abstract: We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.
authors.affiliation: Department of Obstetrics and Gynecology, Karaelmas University Medical School, Zonguldak, Turkey. tanriverdi@artemisonline.net
authors.forename: Hamit Alper
authors.initials: HA
authors.lastname: Tanriverdi
authors.forename: Hans Joachim
authors.initials: HJ
authors.lastname: Hendrik
authors.forename: Kubilay
authors.initials: K
authors.lastname: Ertan
authors.forename: Werner
authors.initials: W
authors.lastname: Schmidt
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging; D017689:Polydactyly / Q000000981:diagnostic imaging; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging*; D011261:Pregnancy Trimester, First; D012008:Recurrence; D013577:Syndrome; D016216:Ultrasonography, Prenatal