Literature DB >> 3799722

A new category of lethal short-limbed dwarfism.

S Knowles, R Winter, D Rimoin.   

Abstract

We describe a first cousin marriage between Asians which resulted in 13 pregnancies; 4 of the offspring were normal, 5 were stillborn dwarves, 3 pregnancies resulted in miscarriage, and one was terminated for dwarfism detected prenatally. The radiology and histology are unique and the pedigree suggests autosomal recessive inheritance.

Mesh:

Year:  1986        PMID: 3799722     DOI: 10.1002/ajmg.1320250106

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


  3 in total

1.  A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Authors:  Hane Lee; Lisette Nevarez; Ralph S Lachman; William R Wilcox; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2015-05-22       Impact factor: 2.802

2.  Case report 693: Schneckenbecken dysplasia.

Authors:  A Giedion; K Biedermann; J Briner; R Soler; M Spycher
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

3.  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

  3 in total

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