Literature DB >> 1244645

Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

S Schorr, C Legum, M Ochshorn.   

Abstract

Two brothers affected by enchondromatosis with marked involvement of the spine including platyspondyly were followed for 12 years. Both brothers were of short stature and normal intelligence. Vertebral involvement in multiple enchondromatosis is very rare. To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. At present, this form cannot be placed within any previously described category. A new term--spondyloenchondrodysplasia--is proposed for this condition which may either be a subform of multiple enchondromatosis or an entirely different and distinct entity.

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Year:  1976        PMID: 1244645     DOI: 10.1148/118.1.133

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  20 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Case report 512: Spondyloenchondrodysplasia (SED) in two siblings.

Authors:  N Ziv; M Grunebaum; L Kornreich; M Mimouni
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

3.  Spondyloenchondrodysplasia.

Authors:  H Menger; K Kruse; J Spranger
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

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

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2012-09-30       Impact factor: 3.134

5.  Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas. Follow-up for over a twelve-year period.

Authors:  N Kaibara; M Mitsuyasu; I Katsuki; T Hotokebuchi; K Takagishi
Journal:  Skeletal Radiol       Date:  1982       Impact factor: 2.199

6.  Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

Authors:  Christiaan de Bruin; Zerrin Orbak; Melissa Andrew; Vivian Hwa; Andrew Dauber
Journal:  Horm Res Paediatr       Date:  2016-01-21       Impact factor: 2.852

7.  Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Authors:  Hye Jung Choo; Tae-Joon Cho; Junghan Song; George E Tiller; Sun Hee Lee; Gunbo Park; In Sook Lee; Ralph Lachman; Andrea Superti-Furga; Ok-Hwa Kim
Journal:  Skeletal Radiol       Date:  2012-05-26       Impact factor: 2.199

8.  Achondroplasia and enchondromatosis in a female child.

Authors:  T Nizankowska-Blaz; S Wisz; K Kozlowski
Journal:  Skeletal Radiol       Date:  2003-05-28       Impact factor: 2.199

9.  Two peculiar types of enchondromatosis.

Authors:  J Spranger; H Kemperdieck; H Bakowski; J M Opitz
Journal:  Pediatr Radiol       Date:  1978-12-04

10.  Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes.

Authors:  E M Azouz
Journal:  Skeletal Radiol       Date:  1987       Impact factor: 2.199

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