Cleidocranial Dysplasia Presenting with Short Stature: A Case Report
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Case Report
VOLUME: 1 ISSUE: 2
P: 92 - 94
June 2014

Cleidocranial Dysplasia Presenting with Short Stature: A Case Report

J Pediatr Res 2014;1(2):92-94
1. Dokuz Eylül Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Endokrinolojisi Bilim Dalı, İzmir, Türkiye
2. Dokuz Eylül Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Genetik Bilim Dalı, İzmir, Türkiye
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Received Date: 14.01.2014
Accepted Date: 04.03.2014
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ABSTRACT

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