Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.
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.
Johnston
K
K
Department of Pediatrics, Stanford University Medical Center, California.
Aarons
R
R
Schelley
S
S
Horoupian
D
D
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