Literature DB >> 9075633

Weill-Marchesani syndrome: report of an unusual case.

N Giordano1, M Senesi, E Battisti, G Mattii, C Gennari.   

Abstract

We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis. The clinical case appears particularly interesting as the patient also had primary osteoporosis, which until now has not been considered as a possible manifestation of Weill-Marchesani syndrome.

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Year:  1997        PMID： 9075633     DOI： 10.1007/s002239900243

Source DB:  PubMed          Journal:  Calcif Tissue Int        ISSN： 0171-967X            Impact factor:   4.333


  4 in total

1.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Authors:  Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan
Journal:  Am J Hum Genet       Date:  2009-11       Impact factor: 11.025

2.  Fibrillin-1 directly regulates osteoclast formation and function by a dual mechanism.

Authors:  Kerstin Tiedemann; Iris Boraschi-Diaz; Irina Rajakumar; Jasvir Kaur; Peter Roughley; Dieter P Reinhardt; Svetlana V Komarova
Journal:  J Cell Sci       Date:  2013-09-15       Impact factor: 5.285

3.  Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Authors:  Mohd Hussain Shah; Vishwanath Bhat; Jyoti S Shetty; Arun Kumar
Journal:  Mol Vis       Date:  2014-06-12       Impact factor: 2.367

4.  Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.

Authors:  Samiullah Khan; Muhammad Mudassir; Naqab Khan; Asmatullah Marwat
Journal:  Pak J Med Sci       Date:  2018 Jan-Feb       Impact factor: 1.088
  4 in total

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