Electronic Health Records ; Humans ; Medical Records ; Odontodysplasia

OBJECTIVETo investigate the prevalence of dental anomalies in Chinese children with complete unilateral cleft lip and palate (UCLP).

METHODSDental histories and radiographs of 244 Chinese children with UCLP were collected. The diagnosis of dental anomalies was based on panoramic radiographs before alveolar bone grafting. All patients were over 8 years old.

RESULTSIn the UCLP group, 66.8% of the patients was presented with hypodontia. The maxillary lateral incisors were the most common teeth affected, followed by maxillary second premolars, mandibular incisors and mandibular second premolars. A total of 33.6% the patients was presented with dental malformation, most were microdontic laterel incisors. A total of 4.9% the patients was presented with hyperdontia. The supernumerary teeth were more frequently found in the cleft region. The prevalence of missing maxillary lateral incisor in the noncleft side was statistically different between genders, which was higher in male (P < 0.050). This group of Chinese children with UCLP demonstrated significantly higher prevalence of hypodontia, hyperdontia, and malformation on the cleft side than on the noncleft side (P < 0.01).

CONCLUSIONSHypodontia is the most common type of dental anomalies. The prevalence of dental anomalies is higher in the UCLP patients than in the normal population. Dental anomalies occur more frequently on the cleft side than on the noncleft side.

Anodontia ; etiology ; Asian Continental Ancestry Group ; Bicuspid ; abnormalities ; Child ; Cleft Lip ; complications ; Cleft Palate ; complications ; Female ; Humans ; Incisor ; abnormalities ; Male ; Mandible ; Maxilla ; Odontodysplasia ; etiology ; Sex Factors ; Tooth Abnormalities ; etiology ; Tooth, Supernumerary ; etiology

OBJECTIVETo study gene mutation in Chinese patients with cleidocranial dysplasia.

METHODSA three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members. Direct sequencing of the PCR products of the coding region of CBFA1 gene was used to identify the mutations.

RESULTSIn each patient of the family, a heterozygous missense mutation, cDNA 674 G > A (R225Q), was detected in CBFA1 exon 3. The mutation changed the sequence in runt domain of the protein.

CONCLUSIONSOur findings indicate that mutation in CBFA1 is responsible for the tooth agenesis and other phenotypes of cleidocranial dysplasia in this Chinese family. The mutation detection could be applied in prenatal diagnosis for the family.

Adolescent ; Adult ; Asian Continental Ancestry Group ; Child ; Cleidocranial Dysplasia ; genetics ; Core Binding Factor Alpha 1 Subunit ; genetics ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Mutation, Missense ; Odontodysplasia ; genetics