Facial and intraoral microforms in Dominican families with a history of cleft lip and/or palate

The etiology of non-syndromic cleft lip and palate has been defined as polygenic and multifactorial; the genetic contribution may come from the mother, the father, or both, and may be expressed or manifested in them as distinct facial phenotypic characteristics or anatomical variants (1). These features are evidence of the presence of associated genetic factors (2).
Sharma and Kharbanda (3) define microforms as the consequence of minimal expression of orofacial cleft genes, resulting in an underlying alteration in various tissues. The identification of orofacial cleft microforms should be directed mainly to the search for a distinctive phenotype, whose characteristics are clearly identifiable in individuals with different types of orofacial clefts and their families (4), as well as to relate the number and presence of microforms to the inheritance pattern of the families studied (5, 6), taking as an example the methodology used in the study conducted in 2018 by Ramirez and Joaquin (6), where the type of cleft was related to the inheritance pattern. Dixon et al. (7), in 2011, maintain that the knowledge of significant facial phenotypes can strengthen family studies and also contribute to the identification of those with a high risk of producing offspring with non-syndromic malformations.
For the above described, it is of interest to characterize the microforms present in these families and to relate them to the diagnosis of the affected patients, as well as to determine the degree of consanguinity of the affected relatives and to relate them to the type and number of microforms found by means of a genealogical tree. In the Dominican Republic and in the same study population, studies of inheritance patterns have been carried out, these genetic studies are very expensive and are not available to all, until now microforms have not been studied, so it is necessary to observe them, as it has been evidenced in the literature previously exposed, these patients could present distinctive facial anatomical variants (4) that could be related to the type of cleft and to the inheritance pattern. The importance of this study is to provide data on the characteristics of these affected families and thus, with the help of both the literature and this and future studies, to determine a specific or distinctive phenotype for families affected by non-syndromic cleft lip and/or palate. Therefore, it is necessary to study the families with these characteristics in the Dominican population.

非综合征性唇腭裂的病因已被界定为多基因和多因素的复合；遗传贡献可能源自母亲、父亲或两者，并可能在他们身上表现为独特的面容表型特征或解剖变异（1）。这些特征是存在相关遗传因素的证据（2）。Sharma 和 Kharbanda（3）将微形态定义为口腔裂基因最小表达的结果，导致各种组织发生潜在的改变。口腔裂微形态的识别应主要针对寻找具有明显特征的独特表型，这些特征在具有不同类型口腔裂及其家族成员中清晰可辨（4），同时将微形态的数量和存在与所研究家族的遗传模式相关联（5, 6），以2018年Ramirez 和 Joaquin（6）进行的研究中所采用的方法为例，其中裂隙类型与遗传模式相关。Dixon 等人（7）在2011年提出，了解显著的面部表型可以加强家族研究，并有助于识别那些具有产生非综合征性畸形后代高风险的人群。对于上述描述，研究存在于这些家庭中的微形态并关联它们与受影响患者的诊断，以及确定受影响亲属的近亲程度，并将它们与通过家谱树发现的微形态的类型和数量相关联，具有重要意义。在多米尼加共和国和相同的研究人群中，已经进行了遗传模式的研究，这些遗传研究成本高昂，并不为所有人所可用，迄今为止，微形态尚未被研究，因此有必要观察它们，正如先前文献中所证实的，这些患者可能呈现独特的面部解剖变异（4），这些变异可能与裂隙类型和遗传模式相关。本研究的重要性在于提供有关受影响家庭特征的资料，从而借助文献和本研究以及未来的研究，确定非综合征性唇腭裂受影响家庭的特定或独特表型。因此，有必要研究多米尼加人群中具有这些特征的家庭。