Related Experiment Video
Updated: Oct 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
When Fryn met Edward: Two rare syndromes in a single patient
Nikunj Nandan1, V Shankar Raman2, Santosh Dey3
1Resident, Department of Surgery, Armed Forces Medical College, Pune, 411040, India.
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.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Related Concept Videos
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex-linked Disorders
Pleiotropy
Pedigree Analysis
Case Studies
Nondisjunction