Etiology and genetic factors in clefts of lip and/or palate reported at children’s hospital, Lahore, Pakistan.

The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1st July 2010 to 31st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children’s Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children (n = 18). Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2nd month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy). Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome). Novel chromosomal aberrations were identified in 2 children. In 82% of the children (n = 82) the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males (P < 0.05). Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies.

Assessment of oral cavity lesions by the patients through self-examination

There is a significant lack in the awareness of oral cancer and its risk factors among the community. The objective of this study was to determine whether those at risk of developing oral cancer are able to correctly detect oral cancers through mouth self-examination [MSE], if given adequate oral health education. 100 Participants received an oral mucosal examination by the dentist to check the presence or absence of potentially malignant oral lesions, then patients performed MSE after education through a self-read leaflet. Following MSE, participants were requested to complete a brief questionnaire. The prevalence of disease was found to be 34%.The sensitivity of MSE was 70%, and the specificity was 93%. MSE had positive predictive value [PPV] of 77% and a negative predictive value [NPV] was 91%. Mouth self-examination can be used as an effective tool to improve the awareness of oral cancer and for the early detection of lesions