Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

Elçioğlu, Nursel

doi:10.1136/jmg.39.8.603

Cited by 28 publications

(28 citation statements)

References 23 publications

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“…To our knowledge this is the first report outlining the clinical and radiologic features of an adult with dysosteosclerosis [Elçioglu et al, 2002]. This case was initially reported three decades ago by Houston et al [1978].…”

Section: Discussionmentioning

confidence: 76%

“…The early clinical presentation resembles osteopetrosis with diffuse sclerosis and thickening of the cranium and narrowing of neural foramina leading to blindness and other cranial nerve involvement [Elçioglu et al, 2002]. However, the radiologic features in our patient differ from osteopetrosis in that the primary feature of osteopenia is predominant and the sclerotic features are less pronounced than in osteopetrosis [Taybi and Lachman, 1996].…”

Section: Discussionmentioning

confidence: 90%

“…There is frequent optic nerve impingement leading to blindness in infancy or early childhood. Other cranial nerves can also be involved leading to facial paralysis and/or hearing loss [Elçioglu et al, 2002]. Abnormal dentition is also a major clinical finding [Packota et al, 1991].…”

Section: Discussionmentioning

confidence: 99%

“…Dysosteosclerosis is a rare bone dysplasia generally thought to be associated with a poor prognosis. There are no published reports, to our knowledge, describing the clinical and radiologic findings in adults with dysosteosclerosis [Houston et al, 1978;Elçioglu et al, 2002]. The patient is now 46 years of age, 31 years after Houston et al [1978] first reported on him.…”

Section: Introductionmentioning

confidence: 85%

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Clinical and radiologic findings in an adult male with dysosteosclerosis

Lemire

Wiebe

2008

American J of Med Genetics Pt A

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Dysosteosclerosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis and platyspondyly. A case of dysosteosclerosis in a 17-year-old male from our institution was first published by Houston et al. 1978. This patient has survived into adulthood and to our knowledge, is the only reported adult with dysosteosclerosis. We will review the clinical and radiographic features in our patient.

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 85%

See 2 more Smart Citations

Clinical and radiologic findings in an adult male with dysosteosclerosis

Lemire

Wiebe

2008

American J of Med Genetics Pt A

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“…The vertebral bodies are small with irregular end plates and pronounced anterior notches. The tubular bones are short with progressive bowing, and fractures are a complication [Elcioglu et al, 2002]. Chitayat et al [1992] reported a girl with a clinical and radiological diagnosis of dysosteosclerosis who presented diffuse intracerebral calcifications.…”

Section: Discussionmentioning

confidence: 98%

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

et al. 2005

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We report a 29-week male fetus with healthy consanguineous parents. He showed a severe sclerosing bone disorder affecting all skeletal elements, resulting in insufficient modeling, generalized densification, and fragility of the skeleton. This skeletal dysplasia was associated with an abnormal craniofacial development (hypertelorism, severe microretrognathia, cleft palate, absent epiglottis, reduced number, and mineralization of teeth buds) and abnormal terminal phalanges. Neuropathologic examination showed bilateral fronto-parietal cerebral polymicrogyria. This syndrome appears to represent a new variant of congenital sclerotic bone disorder of unknown origin. Autosomal recessive inheritance is possible.

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The Erlenmeyer flask bone deformity in the skeletal dysplasias

Faden

Krakow

Ezgu

et al. 2009

American J of Med Genetics Pt A

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Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988–2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick–Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD.

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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

Cited by 28 publications

References 23 publications

Clinical and radiologic findings in an adult male with dysosteosclerosis

Clinical and radiologic findings in an adult male with dysosteosclerosis

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

The Erlenmeyer flask bone deformity in the skeletal dysplasias

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