title: Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.
abstract: We report on 2 brothers with arthrogryposis, hyperkeratosis, and severe hypoplasia of dorsal roots and posterior columns in the one sib who was examined at autopsy. This appears to represent a new arthrogryposis syndrome with poor prognosis, most likely inherited as a single gene, either autosomal or X-linked recessive trait.
authors.affiliation: Department of Pediatrics, Stanford University Medical Center, California.
authors.forename: K
authors.initials: K
authors.lastname: Johnston
authors.forename: R
authors.initials: R
authors.lastname: Aarons
authors.forename: S
authors.initials: S
authors.lastname: Schelley
authors.forename: D
authors.initials: D
authors.lastname: Horoupian
mesh_terms: D001176:Arthrogryposis / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007642:Keratosis / Q000235:genetics / Q000473:pathology; D008297:Male; D013116:Spinal Cord / Q000002:abnormalities; D013126:Spinal Nerve Roots / Q000002:abnormalities