Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.
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.
Tanriverdi
Hamit Alper
HA
Department of Obstetrics and Gynecology, Karaelmas University Medical School, Zonguldak, Turkey. tanriverdi@artemisonline.net
Hendrik
Hans Joachim
HJ
Ertan
Kubilay
K
Schmidt
Werner
W
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