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


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YILDIRIM M. E. , VURAL ÖZEÇ A. , KÜÇÜK KURTULGAN H. , KILIÇGÜN H., BAŞER B.

JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, vol.9, no.6, pp.578-580, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 6
  • Publication Date: 2018
  • Doi Number: 10.4328/jcam.5718
  • Title of Journal : JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Page Numbers: pp.578-580

Abstract

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, brachydactyly and vitamin D deficiency from Sivas, Turkey. She was suffering from Weill-Marchesani syndrome with ADAMTS10 mutation.