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

Abstract

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 Runt-related transcription factor 2 (RUNX2; OMIM 600211) 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.

A Rare Case of Cleidocranial Dysplasia Causing Unilateral Lung Herniation in the Setting of an Acute Viral Infection

“…A genetic transition cannot be identified in 40% of the patients and develops spontaneously. The absence of clavicles or incomplete formation of clavicles is characteristic of this syndrome which can be confirmed with a chest X-ray [3,4]. Frontal bossing is usually seen in patients secondary to the delayed closure of the anterior fontanelle and metopic sutures.…”