title: Syndrome of mental retardation and distal arthrogryposis in sibs.
abstract: Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: K A
authors.initials: KA
authors.lastname: Hodgkinson
authors.forename: S
authors.initials: S
authors.lastname: Blaichman
authors.forename: M E
authors.initials: ME
authors.lastname: Chen
authors.forename: G V
authors.initials: GV
authors.lastname: Watters
authors.forename: S
authors.initials: S
authors.lastname: Khalife
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D001176:Arthrogryposis; D002490:Central Nervous System / Q000002:abnormalities; D003286:Contracture / Q000151:congenital; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability; D011296:Prenatal Diagnosis; D013577:Syndrome