Case report
Cleidocranial Dysplasia: A New Mutation
1İstanbul Okmeydanı Training and Research Hospital, Clinic of Pediatrics, İstanbul, Turkey
2İstanbul Okmeydanı Training and Research Hospital, Clinic of Medical Genetics, İstanbul, Turkey
2İstanbul Okmeydanı Training and Research Hospital, Clinic of Medical Genetics, İstanbul, Turkey
Eur Arch Med Res 2019; 35(4): 253-256 DOI: 10.4274/eamr.galenos.2018.23600
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.
Keywords: Cleidocranial dysplasia, enlarged fontanels, relative macrocephaly