Literature DB >> 7194471

New forms of neonatal death dwarfism. Report of 3 cases.

K Kozlowski, T Tsuruta, Y Kameda, A Kan, G Leslie.   

Abstract

The term Lethal Neonatal Dwarfism (Death Dwarfism) denotes bone dysplasias which always have a fatal outcome. Three different cases of "new" forms of death dwarfism are reported. A babygram should be a routine examination in all the cases of stillborn babies or those who die soon after the birth. If then the diagnosis cannot be established microscopic investigations of the growth cartilage should be performed.

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Mesh：

Year:  1981        PMID： 7194471     DOI： 10.1007/bf00975190

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


  4 in total

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Authors:  J Ryan; K Kozlowski
Journal:  Australas Radiol       Date:  1971-08

2.  Neonatal death dwarfism.

Authors:  K Kozlowski; J Masel; L Morris; J Ryan; E Collins; P Van Vliet; H Woolnough
Journal:  Australas Radiol       Date:  1977-06

3.  Metatropic dwarfism and its variants.

Authors:  K Kozlowski; L Morris; H Reinwein; P Sprague; L A Tamaela
Journal:  Australas Radiol       Date:  1976-12

4.  Neonatal death dwarfism. (A further report).

Authors:  K Kozlowski; J Masel; L Morris; D Kunze
Journal:  Rofo       Date:  1978-11
  4 in total
  10 in total

1.  Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

Authors:  Qiming Xu; Nan Wu; Lijia Cui; Mao Lin; D Thirumal Kumar; C George Priya Doss; Zhihong Wu; Jianxiong Shen; Xiangjian Song; Guixing Qiu
Journal:  Am J Transl Res       Date:  2018-05-15       Impact factor: 4.060

2.  A case of atelosteogenesis.

Authors:  K Temple; C A Hall; L Chitty; M Baraitser
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

3.  Atelosteogenesis: evidence for heterogeneity.

Authors:  D O Sillence; K Kozlowski; J G Rogers; P L Sprague; G J Cullity; R A Osborn
Journal:  Pediatr Radiol       Date:  1987

4.  A case of lethal congenital dwarfism with accelerated skeletal maturation.

Authors:  S Blomstrand; I Claësson; J Säve-Söderbergh
Journal:  Pediatr Radiol       Date:  1985

5.  A case of new chondrodystrophy.

Authors:  T Koide; H Katayama; Y Sumi; K Ishi
Journal:  Pediatr Radiol       Date:  1983

Review 6.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

7.  Neonatal death dwarfism--a new form.

Authors:  N Colavita; K Kozlowski
Journal:  Pediatr Radiol       Date:  1984

8.  The lateral clavicle hook-an acquired as well as a congenital anomaly.

Authors:  A E Oestreich
Journal:  Pediatr Radiol       Date:  1981

9.  Atelosteogenesis type III: a case report.

Authors:  M J Fallon; A Hockey; L A Hallam
Journal:  Pediatr Radiol       Date:  1994

10.  Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Authors:  Helga Rehder; Franco Laccone; Susanne G Kircher; Ralf L Schild; Christiane Rapp; Rainer Bald; Bernt Schulze; Jana Behunova; Juergen Neesen; Katharina Schoner
Journal:  Am J Med Genet A       Date:  2018-05-23       Impact factor: 2.802
  10 in total

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