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Multiple skeletal anomalies in the "13q-" syndrome.

Authors :
Chemke J
Fishel E
Zalish M
Sagiv M
Source :
European journal of pediatrics [Eur J Pediatr] 1978 May 22; Vol. 128 (1), pp. 27-31.
Publication Year :
1978

Abstract

A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.

Details

Language :
English
ISSN :
0340-6199
Volume :
128
Issue :
1
Database :
MEDLINE
Journal :
European journal of pediatrics
Publication Type :
Academic Journal
Accession number :
668715
Full Text :
https://doi.org/10.1007/BF00496923