Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?
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.
McKee
S A
SA
Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK. shane@palmaris.com
Barnicoat
A
A
Fryer
A
A
Flinter
F
F
McCormick
D
D
McKeown
C
C
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*
D003094:Collagen