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, cilt.9, sa.6, ss.578-580, 2018 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4328/jcam.5718
  • Dergi Adı: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), EMBASE
  • Sayfa Sayıları: ss.578-580
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

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.