title: Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.
abstract: Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder.
authors.affiliation: Division of Neonatology, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi, 110029, India.
authors.forename: Kamaldeep
authors.initials: K
authors.lastname: Arora
authors.forename: Anu
authors.initials: A
authors.lastname: Thukral
authors.forename: Rashmi Ranjan
authors.initials: RR
authors.lastname: Das
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Ramesh
authors.initials: R
authors.lastname: Agarwal
mesh_terms: D019066:Facies; D017809:Fatal Outcome; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010641:Phenotype