Skip to main content
SpringerLink
Log in
Book cover

Atlas of Genetic Diagnosis and Counseling pp 2975–2980Cite as

Weill-Marchesani Syndrome

  • Reference work entry
  • First Online:

  • 306 Accesses

Abstract

Weill-Marchesani syndrome (WMS), a rare connective tissue disorder, was first described by Weill in 1932 (Weill 1932) and further delineated by Marchesani in 1939 (Marchesani 1939). It is also known as spherophakia-brachymorphia syndrome or congenital mesodermal dysmorphodystrophy.

This is a preview of subscription content, log in via an institution.

References

  • Chu, B. S. (2006). Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. Clinical and Experimental Optometry, 89, 95–99.

    Article  PubMed  Google Scholar 

  • Chung, J. L., Kim, S. W., Kim, J. H., et al. (2007). A case of Weill-Marchesani syndrome with inversion of chromosome 15. Korean Journal of Ophthalmology, 21, 255–260.

    Article  PubMed  PubMed Central  Google Scholar 

  • Cobot, F., Ruggeri, M., Saheb, H., et al. (2014). Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome. JCRS Online Case Reports, 2, 92–95.

    Article  Google Scholar 

  • Dagoneau, N., Benoist-Lasselin, C., Huber, C., et al. (2004). ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. American Journal of Human Genetics, 75, 801–806.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Dal, D., Sahin, A., & Aypar, U. (2003). Anesthetic management of a patient with Weill-Marchesani syndrome. Acta Anaesthesiologica Scandinavica, 47, 369–370.

    Article  CAS  PubMed  Google Scholar 

  • Evereklioglu, C., Hepsen, I. F., & Er, H. (1999). Weill-Marchesani syndrome in three generations. Eye, 13, 773–777.

    Article  PubMed  Google Scholar 

  • Faivre, L., Dollfus, H., Lyonnet, S., et al. (2003a). Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. American Journal of Medical Genetics Part A, 123, 204–207.

    Article  Google Scholar 

  • Faivre, L., Gorlin, R. J., Wirtz, M. K., et al. (2003b). In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics, 40, 34–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Faivre, L., Mégarbané, A., Alswaid, A., et al. (2002). Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Human Genetics, 110, 366–370.

    Article  CAS  PubMed  Google Scholar 

  • Fujiwara, H., Takigawa, Y., Ueno, S., et al. (1990). Histology of the lens in the Weill-Marchesani syndrome. British Journal of Ophthalmology, 74, 631–634.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Guo, H., Wu, X., Cai, K., et al. (2015). Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. BMC Ophthalmology, 15, 1–4.

    Article  Google Scholar 

  • Harasymowycz, P., & Wilson, R. (2004). Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. Journal of Pediatric Ophthalmology and Strabismus, 41, 295–299.

    PubMed  Google Scholar 

  • Karabiyik, L. (2003). Airway management of a patient with Weill-Marchesani syndrome. Journal of Clinical Anesthesia, 15, 214–216.

    Article  PubMed  Google Scholar 

  • Kloepfer, H. W., & Rosenthal, J. W. (1955). Possible genetic carriers in the spherophakia-brachymorphia syndrome. American Journal of Human Genetics, 7, 398–425.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Kojuri, J., Razeghinejad, M. R., & Aslanil, A. (2007). Cardiac findings in Weill-Marchesani syndrome. American Journal of Medical Genetics, 143A, 2062–2064.

    Article  PubMed  Google Scholar 

  • Kochhar, A., Kirmani, S., Cetta, F., et al. (2013). Similarity of geleophysic dysplasia and Weill–Marchesani syndrome. American Journal of Medical Genetics Part A, 161A, 3130–3132.

    Article  PubMed  Google Scholar 

  • Lim, S-H., Son, J. H., & Cha, S. C. (2016). Acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome: histopathologic lens features. International Ophthalmology, March 11 2016. [Epub ahead of print].

    Google Scholar 

  • Macken, P. L., Pavlin, C. J., Tuli, R., et al. (1995). Ultrasound biomicroscopic features of spherophakia. Australian and New Zealand Journal of Ophthalmology, 23, 217–220.

    Article  CAS  PubMed  Google Scholar 

  • Marchesani, O. (1939). Brachydaktylie und angeborene kugellines als systemerkrankung. Klinische Monatsblätter für Augenheilkunde, 103, 392–406.

    Google Scholar 

  • Nayak, B., Sinha, G., Patil, B., et al. (2015). Golden ring in the eyes: Weill-Marchesani syndrome. BMJ Case Reports, 2015, 1–2.

    CAS  Google Scholar 

  • Pimienta, A. L., Wilcox, W. R., & Reinstein, E. (2013). More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—Diagnostic confusion with geleophysic dysplasia. American Journal of Medical Genetics Part A, 161A, 3126–3129.

    Article  PubMed  Google Scholar 

  • Riad, W., Abouammoh, M., & Fathy, M. (2006). Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. Middle East Journal of Anesthesiology, 18, 725–731.

    PubMed  Google Scholar 

  • Shah, M. H., Bhat, V., Shetty, J. S., et al. (2014). Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Molecular Vision, 20, 790–796.

    PubMed  PubMed Central  Google Scholar 

  • Steinkellner, H., Etzler, J., Gogoll, L., et al. (2014). Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome. European Journal of Human Genetics, 2014, 1–6.

    Google Scholar 

  • Tsilou, E., MacDonald, I. M. (2013). Weill-Marchesani syndrome. GeneReviews. Updated 14 Feb 2013. http://www.ncbi.nlm.nih.gov/books/NBK1114/

  • van de Woestijne, P. C., Harkel, A. D.-J. T., & Bogers, A. J. J. C. (2004). Two patients with Weill-Marchesani syndrome and mitral stenosis. Interactive Cardiovascular and Thoracic Surgery, 3, 484–485.

    Article  PubMed  Google Scholar 

  • Verloes, A., Hermia, J. P., Galand, A., et al. (1992). Glaucoma-lens ectopiamicrospherophakia-stiffness-shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill-Marchesani syndromes. American Journal of Medical Genetics, 44, 48–51.

    Article  CAS  PubMed  Google Scholar 

  • Weill, G. (1932). Ectopie du cristallin et malformations générales. Annales d’Oculistique, 169, 21–44.

    Google Scholar 

  • Willi, M., Kut, L., & Cotlier, E. (1973). Pupillary-block glaucoma in the Marchesani syndrome. Archives of Ophthalmology, 90, 504–708.

    Article  CAS  PubMed  Google Scholar 

  • Wirtz, M. K., Samples, J. R., Kramer, P. L., et al. (1996). Weill-Marchesani syndrome-possible linkage of the autosomal dominant form to 15q21.1. American Journal of Medical Genetics, 65, 68–75.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Weill-Marchesani Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_245

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_245

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation