Literature DB >> 8267013

Mesomelic limb shortness: a previously unreported autosomal recessive type.

W Reardon1, C M Hall, S Slaney, S M Huson, J Connell, N al-Hilaly, J Fixsen, M Baraitser, R M Winter.   

Abstract

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

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Year:  1993        PMID: 8267013     DOI: 10.1002/ajmg.1320470537

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  High resolution sonography using modern equipment.

Authors:  H L Cohen
Journal:  Pediatr Radiol       Date:  1994
  1 in total

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