Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?
We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.
Daish
P
P
Department of Paediatrics, St Mary's Hospital, Portsmouth.
Hardman
M J
MJ
Lamont
M A
MA
D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007593:Joint Instability / Q000235:genetics*; D007738:Kyphosis / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000235:genetics; D012600:Scoliosis / Q000235:genetics*