Literature DB >> 7606320

Desbuquois syndrome: three further cases and review of the literature.

G Gillessen-Kaesbach1, P Meinecke, M G Ausems, M Nöthen, B Albrecht, F A Beemer, K Zerres.   

Abstract

We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.

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Year:  1995        PMID： 7606320

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  4 in total

1.  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

2.  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

3.  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

4.  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
  4 in total

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