Achondroplasia and enchondromatosis in a female child

Nizankowska-Błaz, T; Wisz, S.; Kozlowski, K.

doi:10.1007/s00256-003-0644-y

Cited by 4 publications

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“…Unlike other types of enchondromatosis, metaphyseal enchondromatosis is characterised by extensive development of enchondromas within the epiphysis before closure of the growth plate [ 2 , 3 , 10 , 11 ]. Numakura et al [ 11 ] reported the cases of three boys presenting with achondroplasia and metaphyseal enchondromatosis.…”

Section: Case Presentationmentioning

confidence: 99%

“…Numakura et al [ 11 ] reported the cases of three boys presenting with achondroplasia and metaphyseal enchondromatosis. Nizankowska-Blaz and Kozlowski [ 10 ] reported the case of a girl with achondroplasia with knee pain secondary to metaphyseal enchondromatosis. Scanning techniques were not used in these cases, and spinal involvement was not seen.…”

Section: Case Presentationmentioning

confidence: 99%

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Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report

et al. 2008

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Section: Case Presentationmentioning

confidence: 99%

Section: Case Presentationmentioning

confidence: 99%

Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report

et al. 2008

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Achondroplasia and enchondromatosis: report of three boys

et al. 2007

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We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals. Given the prevalence of achondroplasia and enchondromatosis, the metaphyseal changes in these patients are less likely to represent the coincidence of both disorders, but rather to result from a rare consequence of the FGFR3 mutation. Impaired FGFs/FGFR3 signaling pathway in achondroplasia inhibits chondrocytic proliferation, which accounts for most characteristics of achondroplasia. On the other hand, it causes conflicting biological consequences that can suppress or stimulate chondrocytic maturation. In a small subset of achondroplastic individuals, the suppression of chondrocytic maturation may outweigh the stimulation, which leads to cartilaginous overgrowth into the metaphysis, eventually causing the metaphyseal dysplasia found in the present patients.

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Lachman¹

2007

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias

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Achondroplasia and enchondromatosis in a female child

Abstract: We present a girl with achondroplasia and enchondromatosis. Coexistence of these two disorders has, to the best of our knowledge, not been reported previously.

Cited by 4 publications

References 13 publications

Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report

Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report

Achondroplasia and enchondromatosis: report of three boys

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