Progressive Diaphyseal Dysplasia

Neuhauser, Edward B. D.; Shwachman, Harry; Wittenborg, Martin H.; Cohen, Jonathan

doi:10.1148/51.1.11

Cited by 62 publications

(35 citation statements)

References 2 publications

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“…Musculoskeletal involvement can lead to varying degrees of lumbar lordosis, kyphosis, scoliosis, coxae valga, genua valga, pes planus, and frontal bossing. Short stature was reported in 16 cases, but 14 individuals were Data are compiled from 199 cases reported in the literature including data from this family: [Cockayne, 1920;Camurati, 1922;Engelmann, 1929;Lauterberg, 1931;Fritsch, 1932;Neuhauser et al, 1948;Sear, 1948;Wiedemann, 1948;Michaelis, 1949;Ribbing, 1949;Bingold, 1950;Gvozdanovic, 1950;Stronge and McDowell, 1950;Fairbanks, 1951;Gillespie and Mussey, 1951;Gulledge and White, 1951;Lavine and Koven, 1952;Lima and Rocha, 1952;Anderson, 1953;Jammes et al, 1953;Ortolani and Castagnari, 1953;Paul, 1953;Chipps et al, 1954;Farreras Valenti et al, 1954;Jackson et al, 1954;Perassi, 1954;Weingraber, 1954;Cohen and States, 1956;Griffiths, 1956;Jammes et al, 1956;Singleton et al, 1956;Stewart and Cole, 1956;Roth, 1957;Stegman and Peterson, 1957;Mikity and Jacobson, 1958;Girdany, 1959;Battaglia and Venturi, 1960;Goerke, 1960;Viviani, 1960;…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 99%

“…Engelmann [1929] reported the progressive character of the hyperostosis and its association in an 8-year-old boy with leg pain, decreased muscle mass, and abnormal gait. Neuhauser et al [1948] coined the term PDD, while Gulledge and White [1951] suggested the term progressive diaphyseal hyperostosis. All of these names are accepted to be the same condition that is most commonly known as Camurati-Engelmann disease. PDD is characterized by fusiform enlargement of the diaphyses of the long bones of the limbs.…”

Section: Introductionmentioning

confidence: 99%

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Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Wallace

Lachman

Mekikian

et al. 2004

American J of Med Genetics Pt A

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Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD. We report on a four-generation pedigree with seven individuals affected by PDD, linkage and mutational analysis results, and review the literature. This pedigree demonstrates the autosomal dominant inheritance pattern, remarkable variation in expressivity, and reduced penetrance. The most severely affected individual had progression of mild skull hyperostosis to severe skull thickening and cranial nerve compression over 30 years. His carrier father remained asymptomatic into his ninth decade and had no radiographic hyperostosis or sclerosis of the bones. Symptomatic relatives presented with lower limb pain and weakness. They were initially diagnosed with a variety of other conditions. Two of the symptomatic individuals were treated successfully with prednisone. We genotyped 7 markers from chromosome region 19q13.1-13.3 in 15 relatives and confirmed linkage to this region in this family. We screened the TGFB1 gene for mutations and identified a missense mutation resulting in an R218H substitution in the affected individuals, the asymptomatic obligate carrier, and another unaffected relative. We genotyped the family for seven known TGFB1 polymorphisms and a novel TAAA tetranucleotide repeat in intron 1. These polymorphisms did not appear to account for the variability in disease severity in this family. Our review illustrates how the disorder can significantly compromise health. Cranial involvement, which occurs in 61% of patients, can be severe, entrapping cranial nerves or causing increased intracranial pressure. Therapy with corticosteroids should be attempted in all symptomatic patients.

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Section: Discussion Clinical Findings In Pddmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Wallace

Lachman

Mekikian

et al. 2004

American J of Med Genetics Pt A

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“…Neuhauser et al (1948), however, described abnormal endochondral ossification in two patients with involvement of the skull base as well as the vault. Although it was first described as a diaphyseal disorder, Naveh et al (1984) found progression of the disease into the metaphyses and we now report late involvement of the epiphyses.…”

Section: Discussionmentioning

confidence: 93%

Engelmann’s Disease

Grey

Wallace

Crone

1996

The Journal of Bone and Joint Surgery. British volume

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“…The histological picture is very variable (Neuhauser et al, 1948;Bingold, 1950). The changes, whenever present, are confined to the radiologically altered areas of bone and consist mainly of cortical hyperostosis.…”

Section: Case Reportmentioning

confidence: 99%