Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.
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.
Pratap
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Department of Surgery, BP Koirala Institute of Health Sciences, Dharan, Nepal. akshay_pratap2000@yahoo.co.in
Agrawal
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Raja
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Khaniya
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Tiwari
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Kumar
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D000015:Abnormalities, Multiple / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D017809:Fatal Outcome; D006343:Heart Septal Defects / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D013577:Syndrome; D014430:Twins, Monozygotic