Didem Kaymak1, Verda Alpay1, Hakan Erenel2, İbrahim Adaletli3, Nil Comunoglu4, Riza Madazli1. 1. Department of Obstetrics and Gynecology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey. 2. Department of Obstetrics and Gynecology, Division of Perinatology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey. 3. Department of Radiology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey. 4. Department of Pathology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Abstract
Introduction: 5p deletion syndrome commonly known as cri du chat syndrome is a well-described syndrome in neonates with catlike cry, craniofacial dysmorphic features, abnormal dermatoglyphics, microcephaly and severe psychomotor and developmental delay.Case report: We report a case of 5p deletion syndrome diagnosed prenatally in association with mild ventriculomegaly, cerebellar hypoplasia, pontine hypoplasia, increased subarachnoid space and high suspicion of cortical hypoplasia with ultrasound, magnetic resonance imaging, and postmortem examination. Conclusion: Best to our knowledge, this is the first case that pontine hypoplasia and increased subarachnoid space have been demonstrated prenatally and confirmed by postnatal autopsy.
Introduction: 5p deletion syndrome commonly known as cri du chat syndrome is a well-described syndrome in neonates with catlike cry, craniofacial dysmorphic features, abnormal dermatoglyphics, microcephaly and severe psychomotor and developmental delay.Case report: We report a case of 5p deletion syndrome diagnosed prenatally in association with mild ventriculomegaly, cerebellar hypoplasia, pontine hypoplasia, increased subarachnoid space and high suspicion of cortical hypoplasia with ultrasound, magnetic resonance imaging, and postmortem examination. Conclusion: Best to our knowledge, this is the first case that pontine hypoplasia and increased subarachnoid space have been demonstrated prenatally and confirmed by postnatal autopsy.