Literature DB >> 8152880

Restrictive dermopathy.

M H Reed1, A E Chudley, M Kroeker, D M Wilmot.   

Abstract

Restrictive dermopathy is an inherited syndrome characterized clinically by severe growth retardation, abnormal skin, characteristic facies, and multiple congenital contractures. Distinctive radiologic features include deficient mineralization of the clavicles and the skull, overtubulation and frequent modeling defects of the long bones, and occasional abnormalities of the ribs and scapulae.

Entities:  

Mesh：

Year:  1993        PMID： 8152880     DOI： 10.1007/bf02014983

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


  15 in total

1.  Dermatopathological aspects of restrictive dermopathy.

Authors:  C Piérard-Franchimont; G E Piérard; T Hermanns-Lê; J A Estrada; A Verloes; N Mulliez
Journal:  J Pathol       Date:  1992-06       Impact factor: 7.996

Review 2.  Restrictive dermopathy: a disorder of fibroblasts.

Authors:  D G Paige; B D Lake; A J Bailey; P Ramani; J I Harper
Journal:  Br J Dermatol       Date:  1992-12       Impact factor: 9.302

3.  False-negative prenatal diagnosis of restrictive dermopathy.

Authors:  B C Hamel; R Happle; P M Steylen; L A Kollée; J H Stekhoven; J G Nijhuis; R Rauskolb; I Anton-Lamprecht
Journal:  Am J Med Genet       Date:  1992-12-01

4.  Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.

Authors:  D R Witt; M R Hayden; K A Holbrook; B A Dale; V J Baldwin; G P Taylor
Journal:  Am J Med Genet       Date:  1986-08

5.  Fetal akinesia deformation sequence: an animal model.

Authors:  A C Moessinger
Journal:  Pediatrics       Date:  1983-12       Impact factor: 7.124

6.  Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

Authors:  H V Toriello; J V Higgins; D F Waterman
Journal:  Am J Med Genet       Date:  1983-05

7.  Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

Authors:  R B Lowry; G A Machin; K Morgan; D Mayock; L Marx
Journal:  Am J Med Genet       Date:  1985-11

Review 8.  Restrictive dermopathy. Report of two affected siblings and a review of the literature.

Authors:  K M Welsh; B R Smoller; K A Holbrook; K Johnston
Journal:  Arch Dermatol       Date:  1992-02

9.  Restrictive dermopathy in two brothers.

Authors:  R Happle; J H Stekhoven; B C Hamel; L A Kollée; J G Nijhuis; I Anton-Lamprecht; P M Steijlen
Journal:  Arch Dermatol       Date:  1992-02

Review 10.  The etiology of arthrogryposis (multiple congenital contracture).

Authors:  C A Swinyard; E E Bleck
Journal:  Clin Orthop Relat Res       Date:  1985-04       Impact factor: 4.176
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  1 in total

1.  A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Authors:  Catrina Loucks; Jillian S Parboosingh; Jessica X Chong; Carole Ober; Victoria M Siu; Robert A Hegele; C Anthony Rupar; D Ross McLeod; Alfredo Pinto; Albert E Chudley; A Micheil Innes
Journal:  Am J Med Genet A       Date:  2012-04-11       Impact factor: 2.802
  1 in total

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