Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Alessio Danilo Inchingolo,Paola Orsini,Antonio Scarano,Daniela Di Venere,Felice Lorusso,Ioana Roxana Bordea,Assunta Patano,Giuseppina Malcangi,Giulia Palmieri,Emanuela Ponzi,Valentina Montenegro,Mattia Gentile,Gianna Dipalma,Sabino Ceci,Francesco Inchingolo,Giovanni Coloccia,Romina Ficarella,Angelo Michele Inchingolo,Claudia Laudadio,Massimo Corsalini

doi:10.3390/medicina57121350

Abstract

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life.

Highlights

Cleidocranial dysplasia (CCD) (OMIM#119600), known as Marie and Sainton disease, is a fully penetrant, autosomal dominant genetic disorder, characterized by a large and intrafamilial clinical variability [1]
The estimated prevalence of Cleidocranial Dysplasia (CCD) is one per million births and there is no sex predilection [2,3]. It represents a clinical continuum ranging from classic CCD, characterized by the triad of delayed closure of cranial suture, hypoplastic or aplastic clavicles, and dental anomalies, to mild forms with isolated dental anomalies in the absence of skeletal abnormalities [4]
The subjects affected by cleidocranial dysplasia could present many other systemic involvements such as vertebral bone defects at the cervical and thoracic tract, scoliosis/ lordosis, pelvic tract defects, supernumerary ribs, and defects of the hands, bones, and joints [2,5]

Summary

Introduction

Cleidocranial dysplasia (CCD) (OMIM#119600), known as Marie and Sainton disease, is a fully penetrant, autosomal dominant genetic disorder, characterized by a large and intrafamilial clinical variability [1]. The estimated prevalence of CCD is one per million births and there is no sex predilection [2,3] It represents a clinical continuum ranging from classic CCD, characterized by the triad of delayed closure of cranial suture, hypoplastic or aplastic clavicles, and dental anomalies, to mild forms with isolated dental anomalies in the absence of skeletal abnormalities [4]. Runt-domain mutations are related to important dental anomalies such as supernumerary teeth, eruption alteration, etc. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life

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Discussion

Conclusion