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Dergi Kimliği

Online ISSN (İngilizce)
1305-3124

Basılı ISSN (Türkçe)
1300-5251

Online ISSN (Türkçe)
1305-3132

Kuruluş
1993

Editör
Cihat Şen

Yardımcı Editörler
Murat Yayla, Oluş Api

Joubert syndrome and related disorders: prenatal diagnosis with ultrasound and magnetic resonance imaging

Cantekin İskender, Ebru Tarım, Özlem Alkan

Künye

Joubert syndrome and related disorders: prenatal diagnosis with ultrasound and magnetic resonance imaging. Perinatoloji Dergisi 2011;19(2):110-111

Yazar Bilgileri

Cantekin İskender,
Ebru Tarım,
Özlem Alkan

  1. Başkent University Faculty of Medicine Department of Obstetrics and Gynecology Adana TR
Yazışma Adresi

Cantekin İskender, Başkent University Faculty of Medicine Department of Obstetrics and Gynecology Adana TR,

Yayın Geçmişi

Yayınlanma Tarihi: 01 Nisan 2011

Çıkar Çakışması

Çıkar çakışması bulunmadığı belirtilmiştir.

Joubert syndrome is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the midline cerebellar vermis that resembles the cross-section through a molar tooth, was described previously. The term Joubert Syndrome and Related Disorders (JSRD) has been recently adopted to describe all disorders presenting the "molar tooth sign” on brain imaging. Prenatal sonographic findings in fetuses with JSRD are relatively nonspecific and include increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly and polydactyly. We report a case of JSRD detected prenatally at 23 weeks of gestation. The fetus in the present case had a normal karyotype. Sonographic features of the fetus included polydactyly, partial vermian agenesis, dilated fourth ventricle and mild ventriculomegaly that were confirmed by prenatal MRI. Molar tooth sign was demonstrated in postnatal MRI after pregnancy termination.
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