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...

Full description

Saved in:
Bibliographic Details
Published inSingapore medical journal Vol. 48; no. 4; pp. e106 - e108
Main Authors Pratap, A, Agrawal, A, Raja, S, Khaniya, S, Tiwari, A, Kumar, A
Format Journal Article
LanguageEnglish
Published Singapore 01.04.2007
Subjects
Abnormalities, Multiple - genetics
Diseases in Twins - genetics
Facial Bones - abnormalities
Fatal Outcome
Heart Septal Defects - genetics
Hernia, Diaphragmatic - genetics
Humans
Infant, Newborn
Limb Deformities, Congenital - genetics
Male
Syndrome
Twins, Monozygotic
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0037-5675