Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.

KAYMAK D., Alpay V., ERENEL H., Adaletli I., Comunoglu N., MADAZLI R.

Fetal and pediatric pathology, ss.1-6, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1080/15513815.2019.1669230
  • Dergi Adı: Fetal and pediatric pathology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1-6
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

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.