Literature DB >> 954769

Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?

N D Dinno, L Shearer, B Weisskopf.   

Abstract

We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be recessively inherited syndrome

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Year:  1976        PMID: 954769     DOI: 10.1007/BF00497678

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  2 in total

1.  [Condrodystrophic dwarfism and cleft palate in a newborn].

Authors:  J C Rolland; J Laugier; B Grenier; G Desbuquois
Journal:  Ann Pediatr (Paris)       Date:  1972-02

2.  A severe infantile micromelic chondrodysplasia which resembles Kniest disease.

Authors:  L O Langer; M Gonzalez-Ramos; H Chen; C E Espiritu; N W Courtney; J M Opitz
Journal:  Eur J Pediatr       Date:  1976-08-16       Impact factor: 3.183

  2 in total
  3 in total

1.  Dyssegmental dysplasia (report of two cases with a review of the literature).

Authors:  S Fasanelli; K Kozlowski; S Reiter; D Sillence
Journal:  Skeletal Radiol       Date:  1985       Impact factor: 2.199

2.  A severe infantile micromelic chondrodysplasia which resembles Kniest disease.

Authors:  L O Langer; M Gonzalez-Ramos; H Chen; C E Espiritu; N W Courtney; J M Opitz
Journal:  Eur J Pediatr       Date:  1976-08-16       Impact factor: 3.183

3.  Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Authors:  B D Hall; J Spranger
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

  3 in total

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