Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features
| Autor: | Pekka Nieminen, Kirsti Hurmerinta, Wael Awadh, Anu Kiukkonen, Sirpa Arte, David P. Rice |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Cuspid Taurodontism Cephalometry Cleft Lip Ectropion Mandible Oligodontia 03 medical and health sciences 0302 clinical medicine stomatognathic system Maxilla Genetics Premolar Humans Medicine Craniofacial Child Genetics (clinical) Anodontia Permanent teeth Skull Base Orthodontics Dentition Tooth Abnormalities business.industry 030206 dentistry medicine.disease Blepharocheilodontic syndrome Pedigree 3. Good health Cleft Palate Incisor Radiography stomatognathic diseases 030104 developmental biology medicine.anatomical_structure Face Female Malocclusion business |
| Zdroj: | American Journal of Medical Genetics Part A. 173:905-913 |
| ISSN: | 1552-4825 |
| Popis: | Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft). Also, we assessed clinical records, photographs, dental study casts, and dental radiographs to determine the extent and pattern of tooth agenesis, dental morphology and malocclusion. BCD syndrome patients showed a very severe skeletal III malocclusion (maxillary-mandibular sagittal discrepancy) and reduced anterior lower face measurement compared to non-syndromic BCLP and non-cleft controls (P = 0.001, P = 0.027). All patients exhibited oligodontia (mean number of missing permanent teeth 13.7, range 7-17). All patients exhibited missing upper central and lateral incisor, upper canine and premolar teeth. Variations in dental morphology included taurodontism, conical-shaped teeth, and notching of the incisal edges. All patients had a short and narrow maxilla which translated into anterior and posterior cross bites. We conclude that, in our BCD syndrome group, the craniofacial skeletal defects are more severe than patients with BCLP. The pattern of tooth agenesis is unusual as it included teeth that are normally highly resistant to agenesis, namely upper central incisor and canine teeth. © 2017 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text