RESUMO
Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited developmental disorder that is characterized by pits and/or sinuses of the lower lip and cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. We report the phenotypic variants of the syndrome in a family and present the application of the multicolor chromosome banding (mBAND) analysis in the identification of complex intrachromosome rearrangements of chromosome 9 in a child with VWS. The authors conclude that increased heterochromatin on chromosome 9 did not have any effect on the phenotypic expression of the syndrome in the family that was studied.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 9/genética , Lábio/anormalidades , Fístula Bucal/genética , Criança , Bandeamento Cromossômico/métodos , Fenda Labial/genética , Fissura Palatina/genética , Heterogeneidade Genética , Heterocromatina , Humanos , Hibridização in Situ Fluorescente , Fatores Reguladores de Interferon/genética , Cariotipagem , Escore Lod , Masculino , Linhagem , SíndromeRESUMO
Early Childhood Caries (ECC) is a lifestyle disease that begins when the child's teeth erupt in the oral cavity. The distinctive pattern of decay rapidly spreads from one tooth to another and involves the surfaces of teeth that are usually not at risk. Detection of disease is crucial to control the oral condition using preventive and therapeutic regimes. The aim of this study was to determine the prevalence of caries in children of age 3-6 years in Ludhiana and to examine the relationship between age and caries experience. A total of 609 children in the age group of 3-6 years were examined using def index. To determine dental care seeking attitude, 105 caregivers were interviewed. Results revealed that 52.87% of children in the age group of 3-3.11 years, 45.1% of children in the age group of 4-4.11 years and 58.55% of children in 5-5.11 age groups suffered from caries. The mean def index was 1.82, 1.57 and 2.21, respectively. Interview of caregivers of children revealed that out of 105 only 12 (11.4%) children had previously been to a general dentist. None of them knew about Pedodontics as a specialty. The results of the present study can be used mainly for screening child populations in need of treatment, helping public workers and planners to develop dental health programs to aid early intervention and prevention.
