Literature DB >> 12774176

Achondroplasia and enchondromatosis in a female child.

T Nizankowska-Blaz1, S Wisz, K Kozlowski.   

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.

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Year:  2003        PMID: 12774176     DOI: 10.1007/s00256-003-0644-y

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  17 in total

1.  Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.

Authors:  K S Kozlowski; J Masel
Journal:  Am J Med Genet       Date:  2002-01-22

2.  Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

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8.  Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P N Ward; A De Paepe; P Narcisi; F M Pope
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

9.  Dysspondyloenchondromatosis in the newborn. Report of four cases.

Authors:  K Kozlowski; K Brostrom; J Kennedy; H Lange; L Morris
Journal:  Pediatr Radiol       Date:  1994

10.  Ollier's Disease. An assessment of angular deformity, shortening, and pathological fracture in twenty-one patients.

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Journal:  J Bone Joint Surg Am       Date:  1982-01       Impact factor: 5.284

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  1 in total

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

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Monika Rumpler; Franz Grill
Journal:  J Med Case Rep       Date:  2008-08-11
  1 in total

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