OBJECTIVES: The present study aims to describe the clinical, electrocardiographic, and echocardiographic cardiological findings in a group of patients with oral clefts. METHODS: This is a prospective cross-sectional study on 70 children (age range from 13 days to 19 years) with oral clefts who attended the multidisciplinary program of a university hospital from March 2013 to September 2014. The patients were evaluated by a pediatric cardiologist and underwent detailed anamnesis, physical examination, electrocardiogram, and echocardiogram. RESULTS: Sixty percent of the patients were male; 55.7% presented with cleft lip and palate, and 40.0% presented with health complaints. Comorbidities were found in 44.3%. Relevant pregnancy, neonatal, family and personal antecedents were present in 55.7%, 27.1%, 67.2%, and 24.3% of the patients, respectively. Regarding the antecedents, 15.2% of the patients presented with a cardiac murmur, 49.0% with a familial risk of developing plurimetabolic syndrome, and 6% with family antecedents of rheumatic fever. Electrocardiographic evaluation showed one case of atrioventricular block. Echocardiograms were abnormal in 35.7% of the exams, including 5 cases of mitral valve prolapse — one of which was diagnosed with rheumatic heart disease. CONCLUSION: The finding of a family risk of developing plurimetabolic syndrome and a diagnosis of rheumatic heart disease indicates that patients with oral clefts may be more prone to developing acquired heart disease. Thus, our findings highlight the importance of anamnesis and methodological triangulation (clinical-electrocardiographic-echocardiographic) in the investigation of patients with oral clefts and emphasize that cardiological follow-up to evaluate acquired and/or rhythm heart diseases is necessary. This strategy permits comorbidity prevention and individualized planned treatment.

Abstract Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the central nervous system (CNS). It is suggested that this pattern arises from the presence and migration of two cell lineages in the ectoderm layer during the embryonic period and embryonic cell migration, with different gene expression profiles associated with pigmentation. Several types of chromosomal aberrations, with or without mosaicism, have been associated with this disorder. This study comprised clinical description and cytogenetic analysis of a child with PMI. The G-banded karyotype analysis revealed a supernumerary marker chromosome in 76% of the analyzed metaphases from peripheral blood lymphocytes. Array genomic hybridization analysis showed a copy number gain between 3q26.32-3q29, of approximately 20.5 Mb. Karyotype was defined as 47,XX,+mar[38]/46,XX[12].arr 3q26.32-3q29(177,682,859- 198,043,720)x4 dn. Genes mapped in the overlapping region among this patient and three other cases described prior to this study were listed and their possible involvement on PMI pathogenesis is discussed.

RESUMO OBJETIVOS: Descrever a prevalência de defeitos associados e as características genético-clínicas de pacientes com fendas orofaciais típicas (FOT) em um serviço de referência em genética. MÉTODOS: Estudo descritivo feito entre setembro/2009 e julho/2014. Os dados foram colhidos e codificados por dois observadores clínicos com experiência em dismorfologia, com protocolo validado em estudo multicêntrico. Presença de quatro ou mais defeitos minor, um ou mais defeitos major e diagnóstico de síndrome reconhecida foram critérios usados para classificar o caso como sindrômico. Usou-se teste exato de Fisher para análise de variáveis categóricas e o de Kruskal-Wallis para igualdade de médias. RESULTADOS: Entre 141 sujeitos, 133 (93%) apresentavam ao menos um defeito minor ou major associado, 84 (59,5%) classificados como sindrômicos. As fendas de palato estiveram associadas com maior número de defeitos minor (p < 0,0012) e com a classificação sindrômica (p < 0,01). O grupo sindrômico apresentou maior taxa de baixo peso (p < 0,04) e menor acesso a tratamento cirúrgico (p < 0,02). Não houve diferenças entre os grupos quanto ao gênero (p < 0,55), idade materna ≥ 35 anos (p < 0,50), ingestão de álcool (p < 0,50) e tabagismo (p < 0,11), consanguinidade (p < 0,59), recorrência familial (p < 0,08) e média de gestações (p < 0,32) e de filhos nascidos vivos (p < 0,35). CONCLUSÕES: Existe escassez de informações sobre fendas sindrômicas. O método de classificação fenotípica usado possibilitou a identificação de alta prevalência de defeitos associados e de casos sindrômicos. Esse método seria uma opção para homogeneizar amostras, determinar tecnologias com vistas à investigação etiológica e estudos de correlação genótipo-fenótipo, além de colaborar para intervenção multiprofissional e aconselhamento genético.

ABSTRACT OBJECTIVES: To describe prevalence of associated defects and clinical-genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service. METHODS: Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol. Syndromic cases were defined by the presence of four or more minor defects, one or more major defects, or recognition of a specific syndrome. Fisher's exact and Kruskal-Wallis tests were used for statistics. RESULTS: Among 141 subjects, associated defects were found in 133 (93%), and 84 (59.5%) were assigned as syndromic. Cleft palate was statistically associated with a greater number of minor defects (p < 0.0012) and syndromic assignment (p < 0.001). Syndromic group was associated with low birth weight (p < 0.04) and less access to surgical treatment (p < 0.002). There was no statistical difference between syndromic and non-syndromic groups regarding gender (p < 0.55), maternal age of 35 years and above (p < 0.50), alcohol (p < 0.50) and tobacco consumption (p < 0.11), consanguinity (p < 0.59), recurrence (p < 0.08), average number of pregnancies (p < 0.32), and offspring (p < 0.35). CONCLUSIONS: There is a lack of information on syndromic clefts. The classification system for phenotype assignment adopted in this study has facilitated recognition of high prevalence of associated defects and syndromic cases. This system may be a useful strategy to gather homogeneous samples, to elect appropriate technologies for etiologic and genotype-phenotype approaches, and to assist with multiprofessional care and genetic counseling.