What is it about?
ntroduction: 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.
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Why is it important?
Previous studies have shown that pontine hypoplasia in childhood may be a finding for 5p deletion syndrome. We showed pontine hypoplasia in prenatal period in this case
Perspectives
Writing this article was a great pleasure as it has co-authors with whom I have had long standing collaborations. This article also lead to rare disease groups contacting me and ultimately to a greater involvement in rare disease research.
Didem Kaymak
Istanbul Universitesi
Read the Original
This page is a summary of: Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report, Fetal and Pediatric Pathology, September 2019, Taylor & Francis,
DOI: 10.1080/15513815.2019.1669230.
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