Clinical and socioenvironmental characterizations associated with the genealogical analysis of a group of Dominican patients with nonsyndromic cleft lip with or without cleft palate

Abstract

AbstractIntroduction and AimIn the Dominican Republic, there is an important number of individuals affected by nonsyndromic cleft lip with or without cleft palate (NS CL/P); in the search for the etiology, this study sought to determine the inheritance pattern of NS CL/P and to establish possible associations with clinical and socioenvironmental characteristics in a group of affected patients.Materials and MethodsThe type of cleft was characterized according to the general phenotypic category, the family trees were built according to Bennett et al. (2008, 10.1007/s10897‐008‐9169‐9), the socioenvironmental factors analyzed were tobacco consumption, alcohol, and radiation exposure.ResultsSeventy‐eight patients were analyzed, among whom severe phenotypes were more prevalent, including complete cleft lip and palate (CLP) (61.53%) and bilateral clefts (64%). In the analysis of genealogies, it was determined that 81.5% of the families were sporadic cases, 12.3% were autosomal dominant inheritance, and 6.2% were presented with a multifactorial inheritance. The consumption of alcohol was the most common socioenvironmental factor. There were no reports on the evaluated socioenvironmental factors in cases where heredity was determined as autosomal dominant. No inbred relationships were observed.ConclusionThere were diverse inheritance models for NS CL/P in patients from the Dominican Republic. Sporadic cases constituted the most frequent condition, followed by the existing families with autosomal dominance, and multifactorial inheritance. The absence of socioenvironmental factors commonly associated with pathology in families with autosomal dominant inheritance supports the hypothesis of a more significant genetic influence in this type of inheritance.