NANCE-SWEENEY CHONDRODYSPLASIA - A FURTHER CASE

Citation
Em. Rosser et al., NANCE-SWEENEY CHONDRODYSPLASIA - A FURTHER CASE, Clinical dysmorphology, 5(3), 1996, pp. 207-212
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
09628827
Volume
5
Issue
3
Year of publication
1996
Pages
207 - 212
Database
ISI
SICI code
0962-8827(1996)5:3<207:NC-AFC>2.0.ZU;2-4
Abstract
A 52-year-old male with short stature due to short limbs, a cleft pala te and subcutaneous calcification was described by Nance and Sweeney i n 1970. His parents were consanguineous and two female sibs and two co usins were said to be similarly affected, thus the authors proposed th at this was a previously undescribed recessively inherited chondrodyst rophy. We describe a patient with short stature due to short limbs, su bcutaneous calcification, and a cleft palate with features similar to those described by Nance and Sweeney.