Fetal Magnetic Resonance Imaging Demonstration Of Central Nervous System Abnormalities and Polydactyly Associated With Joubert Syndrome
| Autor: | Yi Ning Su, Wayseen Wang, Fuu Jen Tsai, Jian Pei Huang, Chen-Yu Chen, Chun Kuang Yang, Pei Chen Wu, Chih-Ping Chen, Jon Kway Huang, Yu Peng Liu |
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| Rok vydání: | 2010 |
| Předmět: |
Polyhydramnios
Polydactyly business.industry Preaxial polydactyly Macrocephaly Obstetrics and Gynecology Anatomy medicine.disease Cisterna magna lcsh:Gynecology and obstetrics Joubert syndrome Obstetrics and Gynaecology medicine Cerebellar hypoplasia (non-human) medicine.symptom business lcsh:RG1-991 Ventriculomegaly |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 49, Iss 2, Pp 243-246 (2010) |
| ISSN: | 1028-4559 |
| DOI: | 10.1016/s1028-4559(10)60055-1 |
| Popis: | A 33-year-old woman, gravida 2, para 1, was referred to hospital for prenatal imaging evaluation of the fetal brain and limbs at 27 weeks’ gestation. The woman and her husband were healthy and non-consanguineous. Two years previously, she delivered a female baby at 26 weeks’ gestation with Joubert syndrome (JBTS), DandyWalker malformation, ventriculomegaly, cerebellar vermian hypoplasia and polydactyly of the feet. JBTS was confirmed by magnetic resonance imaging (MRI). The infant’s karyotype was 46,XX. During this pregnancy, cerebellar hypoplasia was noted at 17 weeks’ gestation, and ventriculomegaly and polydactyly were noted at 18 weeks’ gestation. Level II ultrasound examination at 27 weeks’ gestation revealed a male fetus with a femur length and an abdominal circumference equivalent to 27 weeks, polyhydramnios with an amniotic fluid index of 24.07 cm. Macrocephaly was present with an increased biparietal distance of 7.9 cm, an increased head circumference of 28.82 cm, an increased lateral ventricle posterior horn width of 2.64 cm, an increased transcerebellar distance of 3.61 cm, an increased cisterna magna length of 2.10 cm, an increased head circumference to femur length ratio of 5.66 (all > 95 th centile). Ventriculomegaly, vermian hypoplasia, postaxial polydactyly of the left hand and preaxial polydactyly of the hallux of the left foot were also present. A tentative diagnosis of recurrent JBTS was made. Fetal MRI examination at 27 weeks’ gestation revealed the “molar tooth sign”, Dandy-Walker malformation, ventriculomegaly |
| Databáze: | OpenAIRE |
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