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A Case of Apert Syndrome: Early Detection of Temporal Lobe Abnormalities and Scalp Cyst in Fetal Brain Mri Publisher



Tahmasebpour AR1 ; Moradi B2 ; Kazemi MA3
Authors

Source: Iranian Journal of Pediatrics Published:2020


Abstract

Introduction: Apert Syndrome is one of the severe forms of craniosynostosis syndromes. Here we present the first case of 20 weeks fetus with temporal lobe abnormalities with a scalp cyst in fetal MRI. Case Presentation: A 34-year-old woman at 19 weeks of pregnancy presented with normal first trimester scan and with acrocephaly, mild ventriculomegaly (10.5 mm), hypertelorism, and mitten glove syndactyly of hands of the fetus in second trimester ultrasound scan. Also a scalp cyst without calvarial bone defect was found. One week later, fetal brain MRI on 1.5 T scanner confirmed 2D ultrasound findings. Also bilateral temporal lobe overconvolution and low set ears were detected by MRI. These imaging features strongly suggested Apert or a related craniosynostosis syndrome. Amniocentesis result revealed the heterozygous FGFR2 gene mutation consistent with Apert syndrome. Conclusions: Fetal MRI and ultrasound are complementary tools for full evaluation of different aspects of a syndromic condition in fetus that is very important for proper genetic testing and counseling. © 2020, Author(s).
1. Intrauterine Detection of Arachnoid Cysts, Arachnoid Cysts: State-of-the-Art (2023)
3. Fetal Intracranial Hemorrhage and Infarct: Main Sonographic and Mri Characteristics: A Review Article, European Journal of Obstetrics and Gynecology and Reproductive Biology: X (2024)
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