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PMID: 7384726 Published · ppublish fre Case Reports English Abstract Journal Article

[Tricho-rhino-phalangeal syndrome. Four family cases].

Le syndrome tricho-rhino-phalangien. A propos de quatre observations familiales.

Revue du rhumatisme et des maladies osteo-articulaires ·Vol. 47 ·No. 3 ·1980-03-00 ·Pages 169-73

Cottin S, Le Gall G, Lorgeas JM

Abstract

The tricho-rhino-phalangeal syndrome was described in 1966 by Giedion. It is a hereditary disease with a dominant autosomic transmission. The authors describe a family with 7 cases, 4 of which were thoroughly studied. No chromosomic or biochemical error is known. However, x-rays of a young man in this family led us to classify this anomaly among the minor epiphyseal dysplasias related to the peripheral dysostosis of Braislford and clearly distinct Thieman's disease acquired by manual labor.

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Adult Epiphyses/abnormalities Female Finger Joint/abnormalities Fingers/abnormalities Hair/abnormalities Hip Dislocation, Congenital/genetics Humans Male Nose/abnormalities Osteochondritis/genetics Pedigree Syndrome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Cottin S
Le Gall G
Lorgeas J M
Article Info
Journal
Revue du rhumatisme et des maladies osteo-articulaires
Abbr.
Rev Rhum Mal Osteoartic
ISSN
0035-2659
Published
1980-03-00
Pages
169-73
Language
fre
Region
France
NLM ID
0407211
Subset
IM
External Links
PubMed source
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