Achondroplasia and enchondromatosis: report of three boys

Numakura, Chikahiko; Kobayashi, Hironori; Hasegawa, Yukihiro; Adachi, Masanori; Kim, Ok Hwa; Nishimura, Gen

doi:10.1007/s00256-006-0161-x

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…In our patient, the molecular analysis on this domain did not reveal any mutation. Three cases of Ach associated with enchondromatosis were previously reported (17). Our case expands the clinical spectrum of the FGFR3 P250R mutation to encompass osteochodromas and emphasizes the involvement of this gene in human tumors (18,19).…”

Section: Discussionsupporting

confidence: 53%

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

et al. 2009

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Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. Two known mutations were found in the Thanatophoric Dysplasia referred cases. No mutations were identified in the LADD syndrome patient. In Achondroplasia and Hypochondroplasia, genetic heterogeneity was present amongst the 70 clinically diagnosed patients with 5 different mutations identified. As in other studies, complex phenotypic heterogeneity amongst patients carrying the same gene defect was observed. In several cases, the new amino acids encoded, as a consequence of mutations, were related to the severity of patients' phenotype. The presence of 10 misdiagnosed cases emphasizes the importance of performing mutation analysis of the hotspot regions responsible for both dysplasias (Ach and Hch). For patients with an unquestionable clinical diagnosis, lacking the most common mutations, a complete screening of FGFR3 is necessary.

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Section: Discussionsupporting

confidence: 53%

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

et al. 2009

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“…Figure 6 gives examples of enchondromatous changes seen in TRPV4 dysplasias and in achondroplasia. The appearance of metaphyseal enchondromatosis in achondroplasia had been observed by Numakura et al [2007]. In these cases of secondary enchondromatosis, the lesions seem not to be associated with deregulated proliferation of chondrocytes (true enchondromas) but rather to reflect a disturbance in the process of deposition and resorption at sites of endochondral bone growth.…”

Section: Secondary Forms Of Enchondromatosesmentioning

confidence: 86%

Enchondromatosis revisited: New classification with molecular basis

Superti‐Furga

Spranger

Nishimura

2012

American J of Med Genetics Pt C

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The so-called "enchondromatoses" are skeletal disorders defined by the presence of ectopic cartilaginous tissue within bone tissue. The clinical and radiographic features of the different enchondromatoses are distinct, and grouping them does not reflect a common pathogenesis but simply a similar radiographic appearance and thus the need for a differential diagnosis. Recent advances in the understanding of their molecular and cellular bases confirm the heterogeneous nature of the different enchondromatoses. Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are produced by a dysregulation of chondrocyte proliferation, while others (such as spondyloenchondrodysplasia or dysspondyloenchondromatosis) are caused by defects in structure or metabolism of cartilage or bone matrix. In other forms (e.g., the dominantly inherited genochondromatoses), the basic defect remains to be determined. The classification, proposed by Spranger and associates in 1978 and tentatively revised twice, was based on the radiographic appearance, the anatomic sites involved, and the mode of inheritance. The new classification proposed here integrates the molecular genetic advances and delineates phenotypic families based on the molecular defects. Reference radiographs are provided to help in the diagnosis of the well-defined forms. In spite of advances, many cases remain difficult to diagnose and classify, implying that more variants remain to be defined at both the clinical and molecular levels.

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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. Nizankowska-Blaz and Kozlowski [ 10 ] reported the case of a girl with achondroplasia with knee pain secondary to metaphyseal enchondromatosis.…”

Section: Case Presentationmentioning

confidence: 99%