title: Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.
abstract: We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Bamforth
authors.forename: C O
authors.initials: CO
authors.lastname: Leonard
authors.forename: B N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: H L
authors.initials: HL
authors.lastname: Gritter
authors.forename: J A
authors.initials: JA
authors.lastname: Evans
authors.forename: B
authors.initials: B
authors.lastname: Keena
authors.forename: T
authors.initials: T
authors.lastname: Pantzar
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography