Literature DB >> 7783178

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

J Eason1, C M Hall, J Q Trounce.   

Abstract

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months.

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Year:  1995        PMID： 7783178      PMCID： PMC1050326          DOI： 10.1136/jmg.32.3.234

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III.

Authors:  P Meinecke; E Schaefer; H R Wiedemann
Journal:  Am J Med Genet       Date:  1991-05-01

2.  Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.

Authors:  L Van Maldergem; Y Gillerot; M Godhaird; E Nemec; L Koulischer
Journal:  Clin Genet       Date:  1990-11       Impact factor: 4.438

3.  Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

Authors:  F Majewski; M Stoeckenius; H Kemperdick
Journal:  Am J Med Genet       Date:  1982-05

Review 4.  Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

Authors:  F Majewski; T Goecke
Journal:  Am J Med Genet       Date:  1982-05

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

Authors:  R M Winter; J Wigglesworth; B N Harding
Journal:  Am J Med Genet       Date:  1985-07

7.  Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

Authors:  F Majewski; M Ranke; A Schinzel
Journal:  Am J Med Genet       Date:  1982-05
  7 in total
  3 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.  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

3.  Studies on the Small Body Size Mouse Developed by Mutagen N-Ethyl-N-nitrosourea.

Authors:  QianKun Zhang; Kyu-Hyuk Cho; Jae-Woo Cho; Dal-Sun Cha; Han-Jin Park; Seokjoo Yoon; ShouFa Zhang; Chang-Woo Song
Journal:  Toxicol Res       Date:  2008-03-01
  3 in total

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