Literature DB >> 1437369

Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.

S Jéquier1, G Perreault, P Maroteaux.   

Abstract

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Mesh：

Year:  1992        PMID： 1437369     DOI： 10.1007/bf02013506

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


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  7 in total

1.  [Bone dysplasia with dwarfism and diffuse skeletal alterations].

Authors:  C Piussan; P Maroteaux; I Castroviejo; B Risbourg
Journal:  Arch Fr Pediatr       Date:  1975 Jun-Jul

2.  Multiple congenital dislocations associated with characteristic facial abnormality.

Authors:  L J LARSEN; E R SCHOTTSTAEDT; F C BOST
Journal:  J Pediatr       Date:  1950-10       Impact factor: 4.406

3.  Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation.

Authors:  P Meinecke; J Spranger; E Schaefer; P Maroteaux
Journal:  Am J Med Genet       Date:  1989-03

4.  A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age.

Authors:  F A Beemer; P P Kramer; H J van der Harten; L J Gerards
Journal:  Am J Med Genet       Date:  1985-03

5.  A syndrome of short stature, joint laxity and developmental delay.

Authors:  C E Anderson; M E Bocian; A P Walker; R Lachman; D L Rimoin
Journal:  Clin Genet       Date:  1982-07       Impact factor: 4.438

6.  Desbuquois syndrome.

Authors:  M Le Merrer; I D Young; V Stanescu; P Maroteaux
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183

7.  Chondrodystrophic dwarfism and multiple malformations in two sisters.

Authors:  U E Pazzaglia; L Pedrotti; G Beluffi; L Ceciliani
Journal:  Pediatr Radiol       Date:  1988
  7 in total
  3 in total

1.  A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Authors:  G Nishimura; S Sato; T Ogata; S Tamai; T Hasegawa; N Matsuo
Journal:  Eur J Pediatr       Date:  1996-12       Impact factor: 3.183

2.  First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Authors:  Manal M Thomas; Engy A Ashaat; Ghada A Otaify; Samira Ismail; Mona L Essawi; Mohamed S Abdel-Hamid; Heba A Hassan; Sonia A Alsaiedi; Mona Aglan; Mona O El Ruby; Samia Temtamy
Journal:  Mol Syndromol       Date:  2021-07-22

3.  Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2009-09-15
  3 in total

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