Literature DB >> 12029348

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.

Thomas E Herman1, Benjamin C P Lee, William H McAlister.   

Abstract

Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.

Entities:  

Mesh：

Year:  2002        PMID： 12029348     DOI： 10.1007/s00247-001-0638-7

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


  11 in total

Review 1.  Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.

Authors:  Timothy W Vogel; Arnold H Menezes
Journal:  Childs Nerv Syst       Date:  2012-01-25       Impact factor: 1.475

2.  Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Authors:  Arnaud Garnier; Stéphane Dauger; Danièle Eurin; Ida Parisi; Giancarlo Parenti; Catherine Garel; Katy Delbecque; Clarisse Baumann
Journal:  Eur J Pediatr       Date:  2006-08-26       Impact factor: 3.183

3.  Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

Authors:  Alessandro Castriota-Scanderbeg; Francesco Giuseppe Garaci; Giampiero Beluffi
Journal:  Pediatr Radiol       Date:  2004-11-23

4.  Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata.

Authors:  Gerhard S Mundinger; Clifford Weiss; Elliot K Fishman
Journal:  Pediatr Radiol       Date:  2009-02-24

5.  Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata.

Authors:  Pierre Goussard; Savvas Andronikou; Namakula S Semakula-Katende; Robert Gie
Journal:  BMJ Case Rep       Date:  2014-09-22

6.  Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

Authors:  Elżbieta Jurkiewicz; Beata Marcinska; Joanna Bothur-Nowacka; Anna Dobrzanska
Journal:  Pol J Radiol       Date:  2013-04

7.  A case of rhizomelic chondrodysplasia punctata in newborn.

Authors:  Nalan Karabayır; Gonca Keskindemirci; Erdal Adal; Orhan Korkmaz
Journal:  Case Rep Med       Date:  2014-03-09

8.  Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis.

Authors:  Andrea Sanfilippo; Stefano Bartoletti
Journal:  Radiol Case Rep       Date:  2015-11-06

9.  Rare Case of Rhizomelic Chondrodysplasia Punctata.

Authors:  Yashwant Mahale; Vikram V Kadu; Amit Chaudhari
Journal:  J Orthop Case Rep       Date:  2015 Jul-Sep

10.  Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Authors:  Irena Vrečar; Gorazd Rudolf; Borut Peterlin; Luca Lovrecic
Journal:  Mol Cytogenet       Date:  2015-10-31       Impact factor: 2.009
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