Med J Armed Forces India

. 2022 Jan;78(1):109-112. doi: 10.1016/j.mjafi.2019.10.005. Epub 2020 Jan 8. https://pubmed.ncbi.nlm.nih.gov/35035054/

When Fryn met Edward: Two rare syndromes in a single patient

Nikunj Nandan ¹, V Shankar Raman ², Santosh Dey ³, Deepak Dwivedi ⁴Affiliations expand

• PMID: 35035054
• PMCID: PMC8737110 (available on 2023-01-01)
• DOI: 10.1016/j.mjafi.2019.10.005

Abstract

A neonate born at our centre was diagnosed as Fryns Syndrome ie congenital diaphragmatic hernia with facial dysmorphism and distal limb anomalies, which is a rare disorder with only a few hundred cases reported till date.With high clinical index of suspicion and further evaluation, the diagnosis was confirmed. The baby was initially stabilized and later underwent repair of the diaphragmatic hernia. Despite best measures, the baby could not be salvaged. When severe, this can be lethal and diagnosis can only be made after autopsy. However, with early suspicion, better modalities of investigations available and improved NICU care, these babies can be salvaged. We report a case of Fryns Syndrome who was incidentally found to have Edward Syndrome as well. Such an extremely rare combination is yet to be reported in medical literature.Also with updated genetic studies, better diagnostics and treatment options coming up in future, there are chances to improve the survivability of these babies. It is prudent to document all such cases to aid in better understanding of the disease process.

Keywords: Congenital diaphragmatic hernia; Edward syndrome; Fryns syndrome; Genetic counseling.

© 2020 Director General, Armed Forces Medical Services. Published by Elsevier, a division of RELX India Pvt. Ltd.