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 o...

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Veröffentlicht in:	American journal of medical genetics 1993-08, Vol.47 (2), p.246-249
Hauptverfasser:	Johnston, Kathreen, Aarons, Ralph, Schelley, Susan, Horoupian, Dikran
Format:	Artikel
Sprache:	eng
Schlagworte:	arthrogryposis Arthrogryposis - genetics Arthrogryposis - pathology Biological and medical sciences Complex syndromes Fatal Outcome Genes, Recessive genetic disorders Humans Infant, Newborn Keratosis - genetics Keratosis - pathology Male Medical genetics Medical sciences multiple congenital joint contractures Spinal Cord - abnormalities Spinal Nerve Roots - abnormalities
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Zusammenfassung:	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. © 1993 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320470220