European Journal of Ultrasound 15 (2002) 69 – 72 Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case Hamit Alper Tanriverdi a, *, Hans Joachim Hendrik b , Kubilay Ertan b , Werner Schmidt b a Department of Obstetrics and Gynecology, Karaelmas Uniersity Medical School, Zonguldak, Turkey b Department of Obstetrics and Gynecology, Saarland Uniersity Medical School, Kirrbergerstr. 9, 66421 Homburg /SAAR, Germany 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. © 2002 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Meckel Gruber syndrome; Prenatal diagnosis; Ultrasound www.elsevier.com/locate/ejultrasou 1. Introduction The Meckel Gruber Syndrome (MGS) was first described by Meckel in 1822, and Gruber in 1934 made a more precise definition for this syndrome (Henkel et al., 1993). MGS is a fatal condition of multiple congenital anomalies with an encephalo- cele, polydactyly and polycystic kidneys. This syn- drome has an autosomal recessive pattern of transmission, which is mapped to the 17q21 – q23 chromosome (Paavola et al., 1999). Therefore, a high risk of recurrence (25%) in subsequent preg- nancies is a noteworthy point. The diagnosis of this syndrome is accomplished prenatally by ultrasound scanning for the de- scribed fetal anomalies in the first half of preg- nancy. An encephalocele and renal dysplasia may be diagnosed by high resolution ultrasound devices as early as the beginning of the second trimester. In this paper we report of a case of MGS in a woman, who had a pregnancy with the same condition in the past. Clinical screening in further pregnancies is of utmost importance and the man- agement of such cases is presented. * Corresponding author. Present address: Alper Sok. 12/8, 06550 Cankaya-Ankara, Turkey. Tel.: +90-372-2610-169; fax: +90-372-2610-155. E-mail address: tanriverdi@artemisonline.net (H.A. Tanriv- erdi). 0929-8266/02/$ - see front matter © 2002 Elsevier Science Ireland Ltd. All rights reserved. PII:S0929-8266(02)00009-5