AUTHOR=Xue Ru , Zhang Guoqing , Chen Xiafang , Ye Xiuxia 

TITLE=Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.696685

DOI=10.3389/fgene.2021.696685

ISSN=1664-8021

ABSTRACT=<p>Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by <italic>Runt-related transcription factor 2</italic> (<italic>RUNX2; OMIM 600211</italic>) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.</p>