Literature DB >> 1959544

Desbuquois syndrome.

M Le Merrer1, I D Young, V Stanescu, P Maroteaux.   

Abstract

Three patients with short stature, joint laxity, and peculiar pelvic radiology are described. The first case is similar to those described by Desbuquois et al., with deviation of digitis and supernumerary metacarpal bones. The other two children are less severely affected and are compared with others reported in literature. The authors suggest the homogeneity of the Desbuquois syndrome in spite of the variability of expression.

Entities:  

Mesh：

Year:  1991        PMID： 1959544     DOI： 10.1007/bf02026714

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  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.  [Heterogeneity of Larsen's syndrome].

Authors:  P Maroteaux
Journal:  Arch Fr Pediatr       Date:  1975 Aug-Sep

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.  [Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate].

Authors:  F N Silverman
Journal:  Ann Radiol (Paris)       Date:  1972 Mar-Apr

5.  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

6.  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

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
  10 in total

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

Authors:  S Jéquier; G Perreault; P Maroteaux
Journal:  Pediatr Radiol       Date:  1992

Review 2.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

3.  Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Authors:  Franco Laccone; Katharina Schoner; Birgit Krabichler; Britta Kluge; Robin Schwerdtfeger; Bernt Schulze; Johannes Zschocke; Helga Rehder
Journal:  Eur J Hum Genet       Date:  2011-06-08       Impact factor: 4.246

4.  A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

Authors:  Wagner A R Baratela; Michael B Bober; George E Tiller; Ericka Okenfuss; Colleen Ditro; Angela Duker; Deborah Krakow; Deborah L Stabley; Katia Sol-Church; William Mackenzie; Ralph Lachman; Charles I Scott
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

5.  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

6.  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

7.  Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Authors:  Mathilde Nizon; Céline Huber; Fabio De Leonardis; Rodolphe Merrina; Antonella Forlino; Mélanie Fradin; Beyhan Tuysuz; Bassam Y Abu-Libdeh; Yasemin Alanay; Beate Albrecht; Lihadh Al-Gazali; Sarenur Yilmaz Basaran; Jill Clayton-Smith; Julie Désir; Harinder Gill; Marie T Greally; Erkan Koparir; Merel C van Maarle; Sara MacKay; Geert Mortier; Jenny Morton; David Sillence; Catheline Vilain; Ian Young; Klaus Zerres; Martine Le Merrer; Arnold Munnich; Carine Le Goff; Antonio Rossi; Valérie Cormier-Daire
Journal:  Hum Mutat       Date:  2012-05-22       Impact factor: 4.878

8.  CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.

Authors:  Kazuki Kodama; Hiroaki Takahashi; Nobuyasu Oiji; Kenta Nakano; Tadashi Okamura; Kimie Niimi; Eiki Takahashi; Long Guo; Shiro Ikegawa; Tatsuya Furuichi
Journal:  FEBS Open Bio       Date:  2020-04-23       Impact factor: 2.693

9.  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

10.  Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature.

Authors:  Ali Al Kaissi; Christof Radler; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2009-01-13
  10 in total

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