Craniodiaphyseal dysplasia: Evolution over a five-year period

Tucker, Arthur S.; Klein, L.; Antony, Gabor J.

doi:10.1007/bf00347727

Cited by 27 publications

(6 citation statements)

References 6 publications

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“…One patient (not reported here) presented to us with progressive skull involvement encroaching on the calvarial space, papilledema, and increased intracranial pressure. Papilledema was also described in four other cases [Cohen and States, 1956;Morse et al, 1969;Wolf and Ford, 1971;Tucker et al, 1976].…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 90%

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: 90%

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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“…Diagnostic radiographic features consist of osteosclerosis and hyperostosis of the skull and facial bones and to a lesser degree of the diaphyses of the tubular bones. The metaphyses and the epiphyses are grossly normal [Gemmel, 1935;Halliday, 1949;Stransky et al, 1962;Macpherson, 1974;Kaitila et al, 1975;Tucker et al, 1976;Schaeffer et al, 1986;Levy and Kozlowski, 1987;Brueton and Winter, 1990;Janssens et al, 2003]. We report on a boy affected by CDD with severe clinical course associated with hyperparathyroidism and his apparently normal mother, who showed radiographic abnormalities of CDD.…”

Section: Introductionmentioning

confidence: 83%

A boy with severe craniodiaphyseal dysplasia and apparently normal mother

Biegański¹,

Barańska²,

Miastkowska³

et al. 2007

American J of Med Genetics Pt A

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We describe a boy and his mother affected with craniodiaphyseal dysplasia (CDD). The boy had a very severe form of the disease with extensive osteosclerosis already at birth. Facial diplegia, bilateral hearing loss and optic nerve atrophy were early, severe complications of the disease. At age 7 years progressive genu valgum and unusual epimetaphyseal radiographic appearances suggested hyperparathyroidism. This was confirmed by biochemical tests. Because of some facial similarity between the asymptomatic mother and the propositus, a limited skeletal survey of the mother was performed. It demonstrated cranial osteosclerosis and hyperostosis. It is possible that the mother has somatic mosaicism for a mutation of the genes causing CDD.

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“…Radiological examination of the long bones distinguishes the two conditions. In craniometaphyseal dysplasia there is metaphyseal widening and cortical thinning giving rise to a club shaped con- figuration of the long bones, whereas in CDD diaphyseal changes give rise to a cylindrical appearance.6 7 In view of the considerable overlap between recessive craniometaphyseal dysplasia and craniodiaphyseal dysplasia there remains debate as to whether the two conditions are separate entities or whether they are part of a disease spectrum.…”

Section: A Brueton R M Wintermentioning

confidence: 99%