Craniofacial features of cleidocranial dysplasia

Abstract

Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD.

Analysis of Correlation Between Whole Exome Sequencing and Ultrasound Examinationin Prenatal Diagnosis of Fetal Skeletal Dysplasia 

“…The main clinical features of cleidocranial dysplasia include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fth ngers, dental anomalies, and often vertebral malformation [21]. It has been pointed out in previous reports that cleidocranial dysplasia can also be related to the phenotype of nasal bone loss [21], which is consistent with our case study.In our study, some other genetic variations or chromosomal aneuploidies related to the nasal bone loss phenotype are also found, such as the ARSE gene c.331C>T variation and trisomy 21.ARSE gene mutation is related to X-linked recessive chondrodysplasia punctata, which is manifested as nasal dysplasia and distal phalanx dysplasia [22], which is consistent with the phenotype observed during fetal ultrasound testing.Trisomy 21 is the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-de ned and distinctive phenotypic features and natural history [23]. It has been reported that nasal bone dysplasia is a common detected phenotype of fetal trisomy 21 [24], which is consistent with the phenotype of a trisomy 21 case found in our study.…”

Analysis of Correlation between Whole Exome Sequencing and Ultrasound Examination in Prenatal diagnosis of Fetal Skeletal Dysplasia

“…In our study, 2 cases of cleidocranial dysplasia related to RUNX2 gene mutation were detected, which were c.931 946del mutation and c.568C>T mutation. The main clinical features of cleidocranial dysplasia include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation (Pan, et al, 2017). It has been pointed out in previous reports that cleidocranial dysplasia can also be related to the phenotype of nasal bone loss (Pan, et al, 2017), which is consistent with our case study.…”

“…The main clinical features of cleidocranial dysplasia include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation (Pan, et al, 2017). It has been pointed out in previous reports that cleidocranial dysplasia can also be related to the phenotype of nasal bone loss (Pan, et al, 2017), which is consistent with our case study. In our study, some other genetic variations or chromosomal aneuploidies related to the nasal bone loss phenotype are also found, such as the ARSE gene c.331C>T variation and trisomy 21.…”

Clinical and radiological findings in a severe case of cleidocranial dysplasia

“…Core-binding factor is very significant for the development of skeletal system. It is further subdivided into categories, namely core-binding factor alpha (Cbfα) and core-binding factor beta (Cbfβ) 40. The mutation results in heterozygous loss of Cbfα-1 (CBFA1), which is responsible for osteoblasts, dental cell differentiation and endochondral ossification 9.…”

“…The mutation results in heterozygous loss of Cbfα-1 (CBFA1), which is responsible for osteoblasts, dental cell differentiation and endochondral ossification 9. Cbfβ is important in the differentiation of the chondrocytes in the advance stage as its ablation could affect the formation of growth plates and maturation of the chondrocytes 40. The CBFA1 gene monitors the growth and development of the skeletal system through the progression of intramembranous and endochondral ossification and it also regulates the genetic expression of dental epithelial cells.…”