Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome

Cleft Palate Craniofac J. 2017 May;54(3):338-342. doi: 10.1597/14-323.


Objective To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design Case series study. Main Outcome Measures To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Results Seven cases (7/12, 58.33%) were classified as bilateral complete cleft lip and palate (BCCLP). Two cases (2/12, 16.67%) were classified as unilateral complete cleft lip and palate (UCCLP). Three cases (1/12, 8.33%) were classified as unilateral complete cleft lip (UCCL), submucosa cleft uvula (SCU), and bifid uvula (BU), respectively. The ratio of male/female was 9/:3. Keratocystic odontogenic tumors (KCOTs) were presented in all 12 cases. The most common site was the mandible region (12/12, 100%) followed by the maxilla region (7/12, 58.33%). The diagnostic age of 12 NBCCS with CL/P ranged from 11 to 42 years old (usually postponed to the occurring of KCOTs). The delayed diagnosis of NBCCS can be attributed to its complicated clinical manifestations. In some cases, the mutual effect between the surgical therapy of removing KCOTs and alveolar bone grafting made the team approach (TA) of CL/P more complicated. Conclusion CL/P may become important clinical phenotype in NBCCS. The type of cleft varied, with bilateral cleft lip and palate comprising above 50%. Larger sample sizes are needed to study and confirm this result. KCOTs, as one of the most common clinical feature of NBCCS, make the diagnosis delayed and the TA more difficult because of the occurring time and site. This compels us to improve the diagnostic criteria to make an early diagnosis and explore a better therapeutic protocol for CL/P.

Keywords: cleft lip and palate; keratocystic odontogenic tumors; nevoid basal cell carcinoma syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Basal Cell Nevus Syndrome / diagnosis
  • Basal Cell Nevus Syndrome / epidemiology
  • Basal Cell Nevus Syndrome / therapy*
  • Child
  • China / epidemiology
  • Cleft Lip / classification
  • Cleft Lip / diagnosis
  • Cleft Lip / epidemiology
  • Cleft Lip / therapy*
  • Cleft Palate / classification
  • Cleft Palate / diagnosis
  • Cleft Palate / epidemiology
  • Cleft Palate / therapy*
  • Female
  • Humans
  • Male
  • Phenotype