Spondyloperipheral dysplasia

American Journal of Medical Genetics
G SorgeR S Lachman

Abstract

We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations) and brachydactyly. Our patient also manifested a characteristic "pugilistic" face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia.

References

Nov 1, 1987·American Journal of Medical Genetics·J Goldblatt, D Behari
Apr 1, 1983·Journal of Medical Genetics·J Vanĕk

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Citations

Aug 30, 2007·European Journal of Human Genetics : EJHG·Kristien P HoornaertGeert R Mortier
Sep 4, 1998·Australasian Radiology·T Bieganski, K Kozlowski
Aug 19, 2004·American Journal of Medical Genetics. Part a·Andreas ZanklAndrea Superti-Furga
Jun 17, 2008·American Journal of Medical Genetics. Part a·Andreas TzschachLuitgard M Graul-Neumann
Mar 21, 1998·American Journal of Medical Genetics·J ZizkaK Kozlowski
Jul 29, 2003·American Journal of Medical Genetics. Part a·Gen NishimuraTomonobu Hasegawa
May 3, 1996·American Journal of Medical Genetics·B ZabelA Winterpacht

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