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

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