Case Report

Cleidocranial Dysplasia Presenting with Short Stature: A Case Report

10.4274/jpr.43153

  • Hale Ünver Tuhan
  • Gönül Çatlı
  • Ahmet Anık
  • Özge Aksel
  • Ayhan Abacı
  • Ece Böber
  • Derya Erçal

Received Date: 14.01.2014 Accepted Date: 04.03.2014 J Pediatr Res 2014;1(2):92-94

Cleidocranial dysplasia is an autosomal dominantly inherited disease, which is characterized with skeletal abnormalities. Late closure of fontanelles, clavicular agenesis, large symphysis pubis, narrow pelvis and short stature are the main clinical findings. Here, we report a 7.5 years old male who presented with short stature and diagnosed with cleidocranial dysplasia.

Keywords: Cleidocranial dysplasia, short stature, late closure of fontanelles, agenesis of clavicula

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