title: Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?
abstract: We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.
authors.affiliation: Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK. shane@palmaris.com
authors.forename: S A
authors.initials: SA
authors.lastname: McKee
authors.forename: A
authors.initials: A
authors.lastname: Barnicoat
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: F
authors.initials: F
authors.lastname: Flinter
authors.forename: D
authors.initials: D
authors.lastname: McCormick
authors.forename: C
authors.initials: C
authors.lastname: McKeown
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D003094:Collagen; D003286:Contracture / Q000235:genetics / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007596:Joints / Q000002:abnormalities; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology*
chemical_list: D003094:Collagen