Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.' Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.' Among the non-syndromic children, 9% had associated malformations.' The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.' The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.' The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population / Polimorfismo de nucleotídeo único do gene IRF6 rs2235375 está associado com à fenda palatina isolada não sindrômica, mas não com fenda labial com ou sem fenda palatina em população do sul da Índia

Abstract Introduction Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. Objective We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without palate in a South Indian population. Methods 173 unrelated nonsyndromic cleft lip with or without cleft palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. Results There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p = 0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p = 0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p = 0.005). Conclusion These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate.

Resumo Introdução Fatores de transcrição constituem uma família de proteínas muito diversa envolvida na ativação ou repressão da transcrição de um gene, em um determinado momento. Vários estudos usando modelos animais demonstraram o papel dos genes do fator de transcrição no desenvolvimento craniofacial. Objetivo Nosso objetivo foi investigar a associação do polimorfismo IRF6 intron-6 na fenda labial não sindrômica com ou sem fenda palatina em uma população do sul da Índia. Método Um total de 173 pacientes com fenda labial não sindrômica com ou sem fenda palatina e 176 controles sem fendas foram genotipados para a variante IRF6 rs2235375 por amplificação alelo-específica utilizando o sistema KASPar de genotipagem de polimorfismo de nucleotídeo único. A associação entre o polimorfismo de nucleotídeo único Fator 6 Regulatório do Interferon (IRF6) intron-6 dbSNP208032210:g.G>C (rs2235375) e o risco de fenda labial não sindrômica com ou sem fenda palatina foi investigado pelo teste qui-quadrado. Resultados Houve diferenças significativas nas frequências de genótipos ou alelos do rs2235375 SNP entre controles e casos com fenda labial não sindrômica com ou sem fenda palatina. A variante IRF6 rs2235375 foi significativamente associada ao aumento do risco de fenda labial não sindrômica com ou sem fenda palatina em modelos codominantes, dominantes (OR: 1,19; IC 95%: 1,03-2,51; p = 0,034) e alélicos (OR: 1,40; IC 95%: 1,04-1,90; p = 0,028). Quando a análise do subgrupo foi realizada, um risco significativamente aumentado foi observado no grupo Fenda Palatina Isolada (OR dominante: 4,33; IC 95%: 1,44-12,97; p = 0,005). Conclusões Esses resultados sugerem que o polimorfismo de nucleotídeo único IRF6 rs2235375 desempenha um papel importante na patogênese e no risco de desenvolvimento de fenda labial não sindrômica com ou sem fenda palatina.

Retrospective subjective evaluation of aesthetic outcome in secondary cleft lip deformities operated with Abbe’s flap.

Background: The Abbe’s flap is most commonly used to repair the full thickness defects of the lip that do not involve the commissure. The Abbe flap was first introduced to correct the secondary deformity of bilateral cleft lip. By this pedicled flap, we are able to equalize the disparity which existed between the tight upper lip and excessive lower lip. Aims to study retrospective subjective evaluation of aesthetic outcome in secondary cleft lip deformities operated with Abbe’s flap. Methods: 29 patients operated during the period of January 2007 - December 2011 for correction of secondary cleft lip and nasal deformity with Abbe’s flap with or without rhinoplasty were included in our retrospective study. The secondary corrective surgeries were performed by a single surgeon. The photographs of the patients were retrospectively assessed by two plastic surgeons and one oral and maxillofacial surgeon, other than the one who performed the surgery. 29 patients operated during the period of January 2007 - December 2011 for correction of secondary cleft lip and nasal deformity with Abbe’s flap with or without rhinoplasty were included in our retrospective study. The secondary corrective surgeries were performed by a single surgeon. The photographs of the patients were retrospectively assessed by two plastic surgeons and one oral and maxillofacial surgeon, other than the one who performed the surgery. Results: Out of 29 patients with secondary cleft deformities 12 were male and 17 were female. Average follow up period was 3 years. Multiple variables of the nose and the lips were used to assess the aesthetic outcome of Abbe’s flap. Conclusion: As per the subjective retrospective analysis of our study we have come to the conclusion that Abbe’s flap is a work horse for correction of shortage of tissue for the secondary cleft lip deformities. Uniform satisfactory outcome was obtained with a more natural contour and more satisfactory proportion of both lips.