Muhammad Yaqoob, Farrukh Mahmood, Ghazala Hanif, Shazia Iqbal, Saima Mansoor, Muhammad Afzal Sheikh.
Etiology and genetic factors in clefts of lip and/or palate reported at Children's hospital, Lahore, Pakistan.
Pak Paed J Jan ;37(3):156-62.

Objective: To explore underlying causes of cleft lip and/or cleft palate in a group of children affected with these anomalies. Study Design: Case finding cross-sectional descriptive study Place and Duration of Study: Departments of Genetics and Pediatric Surgery, the Children’s Hospital and the Institute of Child Health, Lahore, from July 2010 to May 2011. Subjects and Methods: Hundred patients having cleft lip and/or cleft palate were referred for genetic evaluation from the Out Patient’s Clinic of Surgery Department to the Genetic Clinic of the Children’s Hospital, Lahore. For each case, basic demographic information, as well as antenatal events that could affect the developing fetus were recorded. If a child was found to be developmentally delayed or had any dysmorphic feature other than cleft lip and/or cleft palate, relevant investigations were requested. All demographic and clinical information was recorded on a structured data form. Results: The cause of cleft lip and/or cleft palate was clear in 18% of the children (n=18). Environmental causes were found in 6 children. Six children were suffering from known genetic malformation syndromes. Novel chromosomal aberrations were identified in two children. In 82% of the children (n=82) the cause of cleft lip and/or cleft palate remained unknown. 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. Conclusion: For each case of cleft lip and/or cleft palate thorough clinical and diagnostic evaluation is necessary to identify underlying genetic or environmental causes.

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