Pycnodysostosis: A Variant Form with Visceral Manifestations
Open Access
- 1 October 1972
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 47 (255) , 804-807
- https://doi.org/10.1136/adc.47.255.804
Abstract
The history of a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of phenotypic and perhaps genotypic heterogeneity in metabolic diseases.Keywords
This publication has 7 references indexed in Scilit:
- OsteopetrosisArchives of Disease in Childhood, 1971
- [Dysosteosclerosis--a special form of generalized osteosclerosis].1968
- Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.1968
- PycnodysostosisJournal of Bone and Joint Surgery, 1967
- Pycnodysostosis, with a familial chromosome anomalyThe American Journal of Medicine, 1966
- Studies in OsteopetrosisArchives of Disease in Childhood, 1965
- PycnodysostosisArchives of Disease in Childhood, 1963