Literature DB >> 3975110

A case of lethal congenital dwarfism with accelerated skeletal maturation.

S Blomstrand, I Claësson, J Säve-Söderbergh.   

Abstract

Details of a female infant, who was born after 29 weeks gestation and who died within minutes of birth, are presented. The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet. Apart from a preductal aortic coarctation the pathological findings were confined to the skeleton. The radiographical and histological findings are described in detail; they differ from those of previous studies of similar conditions.

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Year:  1985        PMID: 3975110     DOI: 10.1007/bf02388725

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


  7 in total

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Journal:  Pediatr Radiol       Date:  1976-10-26

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

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Journal:  Pediatr Radiol       Date:  1981-02

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Journal:  Br Med J (Clin Res Ed)       Date:  1981-01-24

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Authors:  B A Walker; C I Scott; J G Hall; J L Murdoch; V A McKusick
Journal:  Medicine (Baltimore)       Date:  1972-01       Impact factor: 1.889

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

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

Review 1.  Parathyroid hormone-related protein.

Authors:  R A Nissenson
Journal:  Rev Endocr Metab Disord       Date:  2000-11       Impact factor: 6.514

Review 2.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

3.  A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

Authors:  I D Young; J M Zuccollo; N J Broderick
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

Review 4.  Pseudohypoparathyroidism: one gene, several syndromes.

Authors:  O Tafaj; H Jüppner
Journal:  J Endocrinol Invest       Date:  2016-12-19       Impact factor: 4.256

Review 5.  Parathyroid hormone-related protein and its receptors: nuclear functions and roles in the renal and cardiovascular systems, the placental trophoblasts and the pancreatic islets.

Authors:  T L Clemens; S Cormier; A Eichinger; K Endlich; N Fiaschi-Taesch; E Fischer; P A Friedman; A C Karaplis; T Massfelder; J Rossert; K D Schlüter; C Silve; A F Stewart; K Takane; J J Helwig
Journal:  Br J Pharmacol       Date:  2001-11       Impact factor: 8.739

6.  Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Authors:  A S Jobert; P Zhang; A Couvineau; J Bonaventure; J Roume; M Le Merrer; C Silve
Journal:  J Clin Invest       Date:  1998-07-01       Impact factor: 14.808

Review 7.  Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Authors:  Alessandra Guasto; Valérie Cormier-Daire
Journal:  Int J Mol Sci       Date:  2021-04-21       Impact factor: 5.923

Review 8.  Genetic disorders of phosphate regulation.

Authors:  Jyothsna Gattineni; Michel Baum
Journal:  Pediatr Nephrol       Date:  2012-02-14       Impact factor: 3.714

9.  The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Authors:  H Jüppner; E Schipani; M Bastepe; D E Cole; M L Lawson; M Mannstadt; G N Hendy; H Plotkin; H Koshiyama; T Koh; J D Crawford; B R Olsen; M Vikkula
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-29       Impact factor: 11.205

10.  The association between environmental lead exposure and bone density in children.

Authors:  James R Campbell; Randy N Rosier; Leonore Novotny; J Edward Puzas
Journal:  Environ Health Perspect       Date:  2004-08       Impact factor: 9.031

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