Literature DB >> 7392080

Chondroectodernal dysplasia in an African child: a case report.

N Guillozet, J Mbede.   

Abstract

Chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by short extremities, short stature, polydactyly, and nail hypoplasia. Dental abnormalities, congenital heart defects, and thoracic abnormalities impending respiration are seen in many patients. Virtually all previous reports of the classic disorder have been in Caucasians. In the following case report, chondroectodermal dysplasia is described in a black Cameroonian infant.

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Year:  1980        PMID: 7392080      PMCID: PMC2552454     

Source DB:  PubMed          Journal:  J Natl Med Assoc        ISSN: 0027-9684            Impact factor:   1.798


  6 in total

1.  DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors:  V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal:  Bull Johns Hopkins Hosp       Date:  1964-10

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  [Asphyxiating thoracic dystrophy with familial characteristics].

Authors:  M JEUNE; C BERAUD; R CARRON
Journal:  Arch Fr Pediatr       Date:  1955

4.  A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

Authors:  R W Ellis; S van Creveld
Journal:  Arch Dis Child       Date:  1940       Impact factor: 3.791

5.  Ellis-van Creveld syndrome.

Authors:  M Feingold
Journal:  Clin Pediatr (Phila)       Date:  1966-07       Impact factor: 1.168

6.  Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

Authors:  A S Hanissian; W W Riggs; D A Thomas
Journal:  J Pediatr       Date:  1967-12       Impact factor: 4.406

  6 in total
  1 in total

1.  Ellis van Creveld syndrome--a report of two siblings.

Authors:  Karthik Hegde; Reema Manoj Puthran; Gopakumar Nair; Preeti P Nair
Journal:  BMJ Case Rep       Date:  2011-10-11
  1 in total

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