Craniodiaphyseal dysplasia.

Brueton, L A; Winter, R M

doi:10.1136/jmg.27.11.701

Cited by 33 publications

(25 citation statements)

References 7 publications

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“…Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. Less than 20 cases of CDD have been reported in the literature (Appleby and Bingham 1996;Brueton and Winter 1990;Itagaki et al 1989;Kaitila et al 1975;Macpherson 1974;Marden and Wippold 2004;Naique and Laheri 2001;Schaefer et al 1986;Shivanand and Kandpal 2007).…”

Section: Introductionmentioning

confidence: 99%

“…Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive-generalized hyperostosis and sclerosis, especially involving the skull and facial bones (Brueton and Winter 1990). The sclerosis is so severe that the resulting facial distortion is referred to as ''leontiasis ossea'' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina (Gorlin et al 1969;Halliday 1949).…”

Section: Introductionmentioning

confidence: 99%

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Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

et al. 2011

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Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extremely rare sclerosing bone dysplasia resulting facial distortion referred to as ''leontiasis ossea'', could also be caused by SOST mutations. We discovered mutations c.61G[A (Val21Met) and c.61G[T (Val21Leu) two children with CDD. As these mutations are located in the secretion signal of the SOST gene, we tested their effect on secretion by transfecting the mutant constructs into 293E cells. Intriguingly, these mutations greatly reduced the secretion of SOST. We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST. Unlike the other SOST-related conditions, sclerosteosis and Van Buchem disease that are inherited as recessive traits seem to be caused by a dominant negative mechanism.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

et al. 2011

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“…Patients with CDD usually present in infancy with typical facies or complications such as respiratory obstruction caused by choanal stenosis. 1 Relentless deposition of bone leads to progressive stenosis of the craniofacial foramina. Neurological complications which have been described include mental retardation and epilepsy (due to cranial encroachment) and palsy of the cranial nerves (II, VII and VIII) caused by foraminal stenosis.…”

Section: Case Reportmentioning

confidence: 99%

“…1,6 Less than 20 cases have been described, the oldest patient being 27 years of age at the time of publication. 1 Although the syndrome and its early complications are well described, the delayed complications in adults are not all known. We describe stenosis of the cervical canal as a late complication of this rare syndrome, and highlight the difficulties in its treatment.…”

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Stenosis of the cervical canal in craniodiaphyseal dysplasia

Naique

Laheri

2001

The Journal of Bone and Joint Surgery. British volume

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C raniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.

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Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

et al. 2000

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We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All affected patients were born to consanguineous healthy parents; this finding, together with the equal sex ratio among affected individuals and the occurrence of only normal individuals among their offspring, indicates that the disease in this family is an autosomal recessive (AR) trait. Taking into account the segregation pattern of the disease in the family and the radiological characteristics of two young CTD patients, the most likely diagnosis for the defect is AR craniometaphyseal dysplasia (CMD). CMD is a CTD, with both autosomal dominant (AD) and recessive forms. The description of the present genealogy confirms the AR pattern of inheritance of some cases of CMD and contributes to a better delineation of the clinical spectrum of AR CMD, suggesting a more pronounced diaphyseal involvement in the AR compared with the AD CMD. Through genomewide scanning, we mapped the AR CMD to a 7 cM interval, between D6S302 and D6S1639, at 6q21-22 region. We have also excluded the positional candidate COL10A1 gene as being the responsible for this disorder. Curiously, a form of AR spondylocostal dysplasia (SD) also segregates in the family, including one affected individual with both conditions. The gene DLL3, mapped to 19q13 region, was recently found to be responsible for one form of AR SD; however, we did not find evidence of linkage between this 19q region and the SD segregating in our family, thus implying in genetic heterogeneity for AR SD.

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Craniodiaphyseal dysplasia.

Cited by 33 publications

References 7 publications

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Stenosis of the cervical canal in craniodiaphyseal dysplasia

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

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