Case Report November 2018

A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency

Weill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are significant and may require some interventions such as eye surgery, physical therapy or orthopedic procedures. Here we report on an eleven year old female with glaucoma, ectopia lentis, microspherophakia,…

Additional Info

  • Recieved 23.01.2018
  • Accepted 20.03.2018
  • Published Online 21.03.2018
  • Printed 01.11.2018
  • DOI 10.4328/JCAM.5718
  • Author Malik Ejder Yıldırım, Ayşe Vural, Hande Küçük Kurtulgan, Hasan Kılıçgün, Burak Başer
  • Identifier 10.4328/JCAM.5718
  • Index Page 592-594
  • How to Cite Yıldırım ME, Vural A, Kurtulgan HK, Kılıçgün H, Başer B. A case of weillmarchesani syndrome with a novel mutation and vitamin d deficiency.J Clin Anal Med 2018;9(6): 592-4.
  • Running Title A case of weill-marchesani syndrome
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