Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in pair of monozygotic twins

Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A
Correspondence: Dr Akshay Pratap, akshay_pratap2000@yahoo.co.in

ABSTRACT
We report a pair of twins with variable expressions of Fryns syndrome, both of whom died in the neonatal period. The syndrome is characterised by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. With this report, there are a total of 83 cases reported in the literature and this further serves to illustrate the clinical variability of this disorder.

Keywords: congenital diaphragmatic hernia, craniofacial dysmorphism, Fryns syndrome, limb hypoplasia, monozygotic twins
Singapore Med J 2007; 48(4): e106–e108