Literature DB >> 9716637

Spondyloenchondrodysplasia: several phenotypes--the same syndrome.

D Uhlmann1, E Rupprecht, E Keller, D Hörmann.   

Abstract

We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests heterogeneity of this group of conditions.

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Year:  1998        PMID: 9716637     DOI: 10.1007/s002470050431

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

1.  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

Review 2.  Enchondromatosis: insights on the different subtypes.

Authors:  Twinkal C Pansuriya; Herman M Kroon; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2010-06-26

3.  A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Authors:  Takanori Utsumi; Satoshi Okada; Kazushi Izawa; Yoshitaka Honda; Gen Nishimura; Ryuta Nishikomori; Rika Okano; Masao Kobayashi
Journal:  Front Endocrinol (Lausanne)       Date:  2017-07-10       Impact factor: 5.555

4.  Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.

Authors:  Seok Woo Hong; Kyung-Hoe Huh; Jeong Keun Lee; Jeong-Hyun Kang
Journal:  Medicine (Baltimore)       Date:  2018-12       Impact factor: 1.817

5.  Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Authors:  Tracy A Briggs; Gillian I Rice; Navid Adib; Lesley Ades; Stephane Barete; Kannan Baskar; Veronique Baudouin; Ayse N Cebeci; Philippe Clapuyt; David Coman; Lien De Somer; Yael Finezilber; Moshe Frydman; Ayla Guven; Sébastien Heritier; Daniela Karall; Muralidhar L Kulkarni; Pierre Lebon; David Levitt; Martine Le Merrer; Agnes Linglart; John H Livingston; Vincent Navarro; Ericka Okenfuss; Anne Puel; Nicole Revencu; Sabine Scholl-Bürgi; Marina Vivarelli; Carine Wouters; Brigitte Bader-Meunier; Yanick J Crow
Journal:  J Clin Immunol       Date:  2016-03-08       Impact factor: 8.317

  5 in total

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