Literature DB >> 1746621

"Snail-like pelvis" chondrodysplasia: a further case report.

G Camera1, G Scarano, A Tronci, G La Cava, P Mastroiacovo.   

Abstract

Chondrodysplasia with snail-like pelvis (Schnechenbecken dysplasia) is a rare distinct, lethal, short-limbed dwarfism. We describe the clinical and radiological features of a new case in an Italian family.

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Mesh：

Year:  1991        PMID： 1746621     DOI： 10.1002/ajmg.1320400429

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


  2 in total

1.  Case report 870. Schneckenbecken dysplasia, possibly a new variant.

Authors:  D Sillence; W Delprado; M Edwards; K Kozlowski
Journal:  Skeletal Radiol       Date:  1994-10       Impact factor: 2.199

2.  A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Authors:  Carsten Rautengarten; Oliver W Quarrell; Karen Stals; Richard C Caswell; Elisa De Franco; Emma Baple; Nadia Burgess; Roobin Jokhi; Joshua L Heazlewood; Amaka C Offiah; Berit Ebert; Sian Ellard
Journal:  Hum Mol Genet       Date:  2019-11-01       Impact factor: 6.150
  2 in total

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