Literature DB >> 19238369

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

Gerhard S Mundinger1, Clifford Weiss, Elliot K Fishman.   

Abstract

Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of congenital vertebral dysplasia.

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Mesh：

Year:  2009        PMID： 19238369     DOI： 10.1007/s00247-009-1181-1

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


  8 in total

1.  Cervical spinal cord compression in chondrodysplasia punctata. Case illustration.

Authors:  Benson P Yang; Stefan A Mindea; Arthur J DiPatri
Journal:  J Neurosurg       Date:  2006-03       Impact factor: 5.115

2.  Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.

Authors:  Matthew E Wolpoe; Nancy Braverman; Sandra Y Lin
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2004-12

3.  [Tracheal stenosis as a complication of chondrodysplasia punctata].

Authors:  H J Kaufmann; S Mahboubi; T J Spackman; M A Capitanio; J Kirkpatrick
Journal:  Ann Radiol (Paris)       Date:  1976 Jan-Feb

4.  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

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

Authors:  Thomas E Herman; Benjamin C P Lee; William H McAlister
Journal:  Pediatr Radiol       Date:  2002-02-02

6.  Cervical spine stenosis in chondrodysplasia punctata.

Authors:  Philippe Violas; Bernard Fraisse; Madeleine Chapuis; Henri Bracq
Journal:  J Pediatr Orthop B       Date:  2007-11       Impact factor: 1.041

Review 7.  Spinal deformity in chondrodysplasia punctata.

Authors:  Dan E Mason; James O Sanders; William G MacKenzie; Yoshinori Nakata; Robert Winter
Journal:  Spine (Phila Pa 1976)       Date:  2002-09-15       Impact factor: 3.468

8.  X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Authors:  Nicola Brunetti-Pierri; Maria Vittoria Andreucci; Rosaria Tuzzi; Giovanna Roberta Vega; George Gray; Carol McKeown; Andrea Ballabio; Generoso Andria; Germana Meroni; Giancarlo Parenti
Journal:  Am J Med Genet A       Date:  2003-03-01       Impact factor: 2.802
  8 in total
  2 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.  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
  2 in total

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