Literature DB >> 4025388

Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.

R M Winter, J Wigglesworth, B N Harding.   

Abstract

We describe a female infant with low birthweight osteodysplastic microcephalic dwarfism. The child has many manifestations in common with those seen in osteodysplastic primordial dwarfism types I and III. The classification of this heterogeneous group of disorders is discussed in the light of the above case.

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Year:  1985        PMID： 4025388     DOI： 10.1002/ajmg.1320210318

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


  10 in total

1.  Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Authors:  R Nagy; H Wang; B Albrecht; D Wieczorek; G Gillessen-Kaesbach; E Haan; P Meinecke; A de la Chapelle; J A Westman
Journal:  Clin Genet       Date:  2011-08-28       Impact factor: 4.438

2.  Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

Authors:  S Spranger; G Tariverdian; F K Albert; D Sontheimer; J Zöller; M Weber; J Tröger
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

3.  Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.

Authors:  A Berger; N Haschke; C Kohlhauser; G Amman; U Unterberger; M Weninger
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

Authors:  Gordana Juric-Sekhar; Raj P Kapur; Ian A Glass; Mitzi L Murray; Shawn E Parnell; Robert F Hevner
Journal:  Acta Neuropathol       Date:  2010-09-21       Impact factor: 17.088

5.  Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Authors:  P Meinecke; E Passarge
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

6.  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors:  Laura S Farach; Mary E Little; Angela L Duker; Clare V Logan; Andrew Jackson; Jaqueline T Hecht; Michael Bober
Journal:  Am J Med Genet A       Date:  2017-12-19       Impact factor: 2.802

7.  Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.

Authors:  T E Herman; N J Mendelsohn; S B Dowton; W H McAlister
Journal:  Pediatr Radiol       Date:  1991

8.  Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

Authors:  J Eason; C M Hall; J Q Trounce
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 9.  Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Authors:  Michael B Bober; Andrew P Jackson
Journal:  Curr Osteoporos Rep       Date:  2017-04       Impact factor: 5.096

10.  Cellular and axonal diversity in molecular layer heterotopia of the rat cerebellar vermis.

Authors:  Sarah E Van Dine; Elsaid Salem; Elizabeth George; Nga Yan Siu; Timothy Dotzler; Raddy L Ramos
Journal:  Biomed Res Int       Date:  2013-09-26       Impact factor: 3.411
  10 in total

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