Cleidocranial Dysplasia: A New Mutation
Journal Title: European Archives of Medical Research - Year 2019, Vol 35, Issue 4
Abstract
Cleidocranial dysplasia is a rare disease with mostly autosomal dominant inheritance. De novo mutations are rare and the disease is characterized by generalized dysplasia of bone tissue. Delay in closure of cranial sutures and fontanels, short stature, dental anomalies, hypoplasic or aplasic clavicles and some other bone anomalies are seen clinically. A 9.5 month old infant who presented with anterior and posterior fontanelle enlargement and separated sagittal suture is presented in this paper.
Authors and Affiliations
Nimet Pınar Yılmazbaş, Diğdem Bezen, Biray Ertürk
Keywords
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- EP ID EP675917
- DOI 10.4274/eamr.galenos.2018.23600
- Views 139
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