Generalized enchondromatosis in a boy with only platyspondyly in the father

Halal, Fahed; Em, Azouz

doi:10.1002/ajmg.1320380418

Cited by 39 publications

(28 citation statements)

References 11 publications

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“…Hopyan et al [2002] describe that one of the two patients having the p.R150C PTHR1 mutation inherited the mutation from his father, who had short statue, similar to a patient described by Halal and Azouz [1991] who was diagnosed with ''generalized enchondromatosis,'' and following an autosomal recessive inheritance pattern. Our population consisted strictly of patients with Ollier disease or Maffucci syndrome, lacking platyspondyly after reviewing their clinical charts and radiographs.…”

Section: Discussionmentioning

confidence: 93%

“…Enchondromatosis can be divided using several subclassifications [Halal and Azouz, 1991;Uhlmann et al, 1998;Kozlowski and Masel, 2002]. The two most important ones are Ollier disease and Maffucci syndrome, both accepted by the WHO [Mertens and Unni, 2002].…”

Section: Discussionmentioning

confidence: 99%

“…Extremely rare is spondyloenchondromatosis, which was described to be autosomal recessive. Its radiographic features include irregularly distributed, mostly discrete enchondromas of long tubular bones and generalized severe platyspondyly with mild or no involvement of hands and feet [Schorr et al, 1976;Halal and Azouz, 1991]. Generalized enchondromatosis, with patients having platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of the hands and feet, has also been described [Spranger et al, 1978;Halal and Azouz, 1991].…”

Section: Discussionmentioning

confidence: 99%

“…Apart from these two enchondromatosis syndromes, recognized by the World Health Organization (WHO) [Mertens and Unni, 2002], there are other extremely rare distinct variants described, such as spondyloenchondromatosis (MIM# 271550) [Chagnon et al, 1985;Halal and Azouz, 1991;Uhlmann et al, 1998;Kozlowski and Masel, 2002].…”

Section: Introductionmentioning

confidence: 99%

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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

et al. 2004

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Communicated by Arnold MunnichEnchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. The mutation is thought to result in upregulation of the IHH/ PTHrP pathway. This is in contrast to previous studies, showing downregulation of this pathway in other cartilaginous tumors. Therefore, we investigated PTHR1 in enchondromas and chondrosarcomas from 31 enchondromatosis patients from three different European countries, thereby excluding a population bias. PTHR1 protein expression was studied using immunohistochemistry, revealing normal expression. The presence of the described PTHR1 mutation was analyzed, using allele-specific oligonucleotide hybridization confirmed by sequence analysis, in tumors from 26 patients. In addition, 11 patients were screened for other mutations in the PTHR1 gene by sequence analysis. Using both allele-specific oligonucleotide hybridization and sequencing, we could neither confirm the previously found mutation nor find any other mutations in the PTHR1 gene. These results indicate that the PTHR1 gene is not, in contrast to previous suggestions, the culprit for enchondromatosis. Hum Mutat 24: [466][467][468][469][470][471][472][473] 2004. r 2004 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

et al. 2004

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“…Subtypes of enchondromatosis associated with spine involvement are well documented in the literature (Table 1) [6][7][8][9][10][11][12][13][14][15][16] .…”

Section: Discussionmentioning

confidence: 99%

Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV)

et al. 2012

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We describe a male patient, who was seen for the first time at the age of 8 years because of short trunk dwarfism. Spine radiographs showed platyspondyly with irregular areas of increased and decreased mineralization (irregular spotted appearance within lytic lesions located along the posterior vertebral bodies of the entire spine). Skeletal survey showed no enchondromatous lesions of the short/long tubular bones. At the age of 17, progressive spine stiffness associated with stooping posture developed. 3DCT scanning showed pathological transformation of the spinal enchondromas into generalized ossification and thickening of the posterior vertebral elements (vertebral laminae, supraspinal, and interspinal ligaments, respectively) causing effectively the development of a diffuse posterior spinal ankylosis. We report what might be a unique subtype of spondyloenchondrodysplasia (Spranger type IV).

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Autosomal dominant inheritance of spondyloenchondrodysplasia

Bhargava

Leonard

Chan

et al. 2005

American J of Med Genetics Pt A

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Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed.

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Generalized enchondromatosis in a boy with only platyspondyly in the father

Cited by 39 publications

References 11 publications

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV)

Autosomal dominant inheritance of spondyloenchondrodysplasia

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