Literature DB >> 9719382

Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

N Elçioglu1, C M Hall.   

Abstract

Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible association with maternal systemic lupus erythematosus is highlighted.

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Year:  1998        PMID： 9719382      PMCID： PMC1051401          DOI： 10.1136/jmg.35.8.690

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?

Authors:  Z Borochowitz
Journal:  Am J Med Genet       Date:  1991-12-15

Review 2.  Neonatal lupus syndromes.

Authors:  C E Tseng; J P Buyon
Journal:  Rheum Dis Clin North Am       Date:  1997-02       Impact factor: 2.670

Review 3.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

4.  Mesomelic dysplasia with punctate epiphyseal calcifications--a new entity of chondrodysplasia punctata?

Authors:  U Burck
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

5.  Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Authors:  M Rittler; H Menger; J Spranger
Journal:  Am J Med Genet       Date:  1990-10

6.  [Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata].

Authors:  A Leicher-Düber; R Schumacher; J Spranger
Journal:  Rofo       Date:  1990-04

7.  Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.

Authors:  P Maroteaux
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

Review 8.  Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K.

Authors:  A M Howe; A H Lipson; L J Sheffield; E A Haan; J L Halliday; F Jenson; D J David; W S Webster
Journal:  Am J Med Genet       Date:  1995-09-11

9.  Chondrodysplasia punctata: another possible X-linked recessive case.

Authors:  C P Bennett; A C Berry; D J Maxwell; M J Seller
Journal:  Am J Med Genet       Date:  1992-12-01

Review 10.  A practical guide to systemic lupus erythematosus.

Authors:  T J Lehman
Journal:  Pediatr Clin North Am       Date:  1995-10       Impact factor: 3.278
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  3 in total

1.  Chondrodysplasia punctata and maternal systemic lupus erythematosus.

Authors:  H V Toriello
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 2.  Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

Authors:  Steffan W Schulz; Michael Bober; Caitlyn Johnson; Nancy Braverman; Sergio A Jimenez
Journal:  Semin Arthritis Rheum       Date:  2008-12-24       Impact factor: 5.532

Review 3.  Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Authors:  Hadeel Alrukban; David Chitayat
Journal:  Appl Clin Genet       Date:  2018-04-20
  3 in total

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