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PMID: 3723551 Published · ppublish English Case Reports Journal Article

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Journal of medical genetics ·Vol. 23 ·No. 3 ·1986-06-00 ·Pages 231-6

Vanĕk J, Janda J, Amblerová V, Losan F

Abstract

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

MeSH Terms
Adult Arthrogryposis/classification,genetics Biopsy Clubfoot/genetics Dermatoglyphics Electromyography Female Fingers/abnormalities Humans Male Microstomia/genetics Mouth Diseases/genetics Muscles/pathology Muscular Diseases/genetics,pathology Syndrome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Vanĕk J
Janda J
Amblerová V
Losan F
References (8)
8 references, click to expand
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    Beitr Orthop Traumatol. 1978 May;25(5):241-7 PMID: 98163
  7. A family with whistling-face-syndrome.
    Hum Genet. 1980;55(2):177-89 PMID: 7450762
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.23.3.231
Published
1986-06-00
Pages
231-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1049633
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.23.3.231 PMC Full Text View journal details
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