Literature DB >> 1408436

A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.

K Kozlowski1, J Brown, R Hardwick, D Sillence.   

Abstract

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.

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Year:  1992        PMID: 1408436     DOI: 10.1007/bf02016246

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


  1 in total

1.  Radiographic findings in Shprintzen-Goldberg syndrome.

Authors:  G Nishimura; T Nagai
Journal:  Pediatr Radiol       Date:  1996-11
  1 in total

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