1972/03/01 by R S Sparkes, R.S. Sparkes, C B Graham +1 · 3 citations
Biochemistry, Genetics and Molecular Biology · Dentistry · Medicine · #Bioinformatics #Biology #Bone and Dental Protein Studies #Dermatological and Skeletal Disorders #Disease #Evolutionary biology #Gene #Genetics #Human genetics #Medical genetics #Medicine #Oral and Maxillofacial Pathology #Pathology
paper · pdf · doi:10.1136/jmg.9.1.73
openalex publication_date 1972/03/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
This syndrome, which usually carries the names of Camurati and Engelmann, was first described by Cockayne in 1920.Its hereditary nature was sug- gested by Camurati (1922) who reported a father and son both with painful lower extremities which showed cortical thickening and sclerosis of the diaphyses on x-ray examination.The single case report of Engelmann in 1929 documented muscular wasting and marked bone involvement.Neuhauser et al (1948) subsequently named this rare condition 'progressive diaphyseal dysplasia' emphasizing the progression of the hyperostosis along the shafts of the bones.Subsequently, both sporadic and familial cases have been described.This report is the result of the authors' unusual opportunity to study extensively a large, cooperative family with 8 affected individuals in 3 generations, representing the largest affected kindred to date.Our observations in this family, together with those from the literature, demonstrate the considerable variability of this autosomal dominant inherited disorder.Clinical and genetic considerations are stressed here, and the radiological manifestations are discussed in greater detail elsewhere (Graham and Sparkes, 1972). Material, Methods, and ResultsDetails of the family relationships are presented in the pedigree of Figure 1.Two propositi (IV.1 and IV.12) were discovered independently.Because of the known bone abnormalities in Camurati-Engelmann disease it was elected to screen all available family members by radiological examination.The femurs were selected