Análise comparativa entre a influência da amamentação e hábitos bucais deletérios no crescimento craniofacial / Comparative analysis between the influence of breastfeeding and deleterial oral habits on craniofacial growth

A adoção da chupeta e mamadeira pelos pais podem trazer problemas no desenvolvimento craniofacial da criança. A sucção digital é outro fator influenciador da má formação da face, este pode ser antecedido pela mamadeira e chupeta. O conhecimento sobre o desenvolvimento facial correto ajuda no reconhecimento de desvios da normalidade. Foi realizada uma revisão da literatura a fim de analisar e comparar os efeitos no crescimento facial entre os hábitos deletérios e a amamentação fisiológica. Muitos registros de malformações causadas por hábitos deletérios foram encontrados. Conclui-se que a amamentação natural ainda é a melhor forma de alimentação para crianças, e nenhuma outra opção será melhor que a fisiológica, sendo aconselhável evitar o uso dos demais(AU)

The adoption of pacifiers and bottles by parents can bring problems in the child's craniofacial development. Finger sucking is another factor influencing the malformation of the face, which can be preceded by the bottle and pacifier. Knowledge about correct facial development helps in recognizing deviations from normality. A literature review was carried out in order to analyze and compare the effects on facial growth between harmful habits and physiological breastfeeding. Many records of malformations caused by deleterious habits were found. It is concluded that natural breastfeeding is still the best form of feeding for children, and no other option will be better than the physiological one, being advisable to avoid the use of the others(AU)

Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).@*METHODS@#Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.@*RESULTS@#The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.

Caracterización de pacientes con deformidades faciales / Characterization of patients with facial deformities

Introducción: Las deformidades faciales se expresan como alteraciones métricas perceptibles en la proporción o simetría facial, en desacuerdo con los cánones de belleza y aceptación social históricamente concretos, con repercusión en la psicología del paciente y su entorno. Objetivos: Caracterizar a los pacientes con deformidades faciales de acuerdo al sexo, edad, etiología y localización, así como determinar la relación entre ellas. Método: Las variables estudiadas fueron recogidas durante el examen físico de los pacientes (46), previo consentimiento, vaciadas en una base de datos para su procesamiento, mediante medidas de frecuencias. Para las comparaciones se realizó la prueba exacta de Fisher. Resultados: Predominó el sexo masculino (54,3 por ciento), la etiología traumática con el grupo de edad de 40 - 49 años (19,6 por ciento), el 26,1 por ciento de los pacientes presentaron deformidades de más de una región y no se obtuvieron relaciones estadísticamente significativas en ningunas de las relaciones exploradas. Conclusiones: En los pacientes estudiados prevaleció el sexo masculino, de entre 40 y 49 años, la etiología traumática y localización en una sola región anatómica (AU)

Introduction: Facial deformities are expressed as perceptible metric alterations in facial proportion or symmetry, at odds with historically specific canons of beauty and social acceptance, with repercussions on the psychology of the patient and his or her environment. Objectives: To characterize patients with facial deformities according to sex, age, etiology and location, as well as to determine the relationship between them. Method: The variables studied were collected during the physical examination of the patients (46) with their consent, and were entered into an SPSS Statistics 22 database where statistical processing was carried out with frequency measures. To compare the Fisher's exact test was used. Results: Male sex predominated (54,3 percent ), traumatic etiology with the age group of 40-49 years (19,6 percent), 26,1 percent of the patients presented deformities of more than one region and no statistically significant relationships were obtained in any of the explored relationships. Conclusions: Among the patients studied prevailed male sex, age between 40 and 49 years old, traumatic etiology and located in one anatomical region(AU)

Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.

Clinical and genetic analysis of a child with Niikawa-Kuroki syndrome / 中华医学遗传学杂志

OBJECTIVE@#Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate.@*METHODS@#The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA). And the whole exome sequencing (WES) was used to analyze the pathogenic variant.@*RESULTS@#The children had mild mental retardation and the IQ was 61. There was moderate hearing loss in both ears(left ear 60 dB, right ear 65 dB). And bilateral horizontal hypoplasia of semicircular canal was found by cranial MRI test. No copy number abnormality was found by chromosome karyotype analysis and chromosome microarray analysis in peripheral blood. And whole exome sequencing suggested that there was heterozygous pathogenic variants in KMT2D gene (p.Leu545Argfs*385).@*CONCLUSION@#The patient has a peculiar face and multiple system defects, and was diagnosed as Niikawa-Kuroki syndrome type I by KMT2D gene variant. The whole exome sequencing is helpful for the diagnosis of complex genetic diseases.

Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a child with recurrent infection, multiple malformation and dysmorphism.@*METHODS@#The child and his parents were subjected to trio whole exome sequencing.@*RESULTS@#The child had a complaint of fever and cough, with long and thin eye fissures and long eyelashes. Genetic testing revealed that the child has carried a non-triplet deletion of the KDM6A gene, which was unreported previously. The variant resulted in frameshift and premature termination of the translation. His parents were both of the wild type for the locus. After antibiotic and immunoglobulin treatment, the severe secondary pneumonia caused by immunodeficiency has improved.@*CONCLUSION@#With combined laboratory test, imaging examination and genetic testing, the child was ultimately diagnosed with Kabuki syndrome type 2. The characteristics of immunodeficiency of Kabuki syndrome may render conventional antibiotic treatment ineffective, which deserves clinical attention.

Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene.@*METHODS@#Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported.@*CONCLUSION@#This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.

Disabilities in leprosy: an open, retrospective analyses of institutional records

Abstract Background and objectives: Leprosy remains a leading cause of peripheral neuropathy and disability in the world. Primary objective of the study was to determine the incidence of deformities present at a time of diagnosis and new deformities that patients develop over follow up period. Material and methods: An open, retrospective cohort study was performed at a tertiary medical center in western India. Recruitment phase of the study was of 2 years (2009-2010) followed by observation/follow up phase of 7 years till 31st December 2017. New patients with leprosy and released from treatment cases who presented with deformity as defined by WHO disability grade (1998) and subsequently developing new deformities during the follow up period of up to 7 years were included in the study. Results: The study included 200 leprosy patients. Of the total 254 deformities, 168 (66.14%) deformities were noticed at the moment of diagnosis, 20 (7.87%) deformities occurred during the follow up phase. Of all patients, 21.25% had Grade 1 deformity and 6.31% had Grade 2 or more severe deformity. Deformities of hand were most common in 44.48%, followed by feet 39.76%, and face 15.74% respectively. Limitation of study: Mode of inclusion of patient was self-reporting during follow up phase so there is possible under reporting of the disabilities. Conclusion: New deformities continue to develop in certain forms of leprosy even after release from treatment. Long-term & regular follow up of patients who have been released from treatment is required.

Retalho interpolado de sulco nasogeniano em único estágio para reconstrução de defeitos nasais e de canto interno da órbita / Single-stage nasolabial interpolation flap for reconstructing defects of the nose and inner corner of the eye

Introdução: Os retalhos interpolados são opções cirúrgicas eficazes para reconstruções de defeitos cutâneos em várias áreas do corpo, inclusive na face. O retalho proposto dispensa cuidados pós-operatórios com o pedículo exposto e pode ser realizado em tempo único. O objetivo é avaliar a utilidade do retalho interpolado de sulco nasogeniano (RISN) em ilha, na reconstrução de segmentos nasais e do canto interno da órbita, bem como discutir refinamentos em seu design e execução. Métodos: Estudo retrospectivo de prontuários de pacientes com defeitos nasais ou de canto interno da órbita, e que foram reparados com retalho interpolado do sulco nasogeniano. Todos os retalhos foram confeccionados de maneira randômica, realizando-se túnel subcutâneo para evitar pedículo exposto e cicatriz que comunicasse a área doadora e o defeito. Resultados: cinco pacientes foram incluídos no estudo, com idade entre 30 e 92 anos. Em todos os casos foi realizada biópsia de congelação intraoperatória que revelou margens livres de doença, orientando a extensão da ressecção. O CBC foi encontrado em 4 pacientes e o CEC em um paciente. Não houve complicações como sangramento pós-operatório ou necrose. Bons resultados funcionais e estéticos foram alcançados em todos os pacientes. Discussão: Vale ressaltar a versatilidade do retalho nasogeniano interpolado, sendo capaz de auxiliar na reconstrução de defeitos extensos não apenas de asa, ponta e columela nasais, mas também de dorso e canto medial do olho. Destaca-se também o aspecto estético mais favorável do pedículo do retalho interpolado em ilha comparado ao de transposição. Conclusão: O RISN interpolado em único estágio é uma opção confiável na reconstrução de segmentos faciais. Apresenta boa vascularização, possibilidade se ser realizado em único tempo e pode ser utilizado para cobertura nos locais onde há poucas opções reconstrutivas disponíveis.

Introduction: Interpolation flaps are effective surgical options for reconstructing skin defects in various areas of the body, including the face. The proposed flap does not require postoperative care with the pedicle exposed and can be performed in a single surgery. The objective is to evaluate the usefulness of the nasolabial interpolation island flap (NIF) for reconstructing nasal segments and the inner corner of the eye, as well as discuss improvements in its design and performance. Methods: In this retrospective study, medical records of patients with nasal defects that were repaired with a nasolabial interpolation flap were reviewed. All flaps were created with a subcutaneous tunnel to avoid pedicle exposure and prevent scar connection with the donor area and the defect. Results: Five patients aged 30­92 years were included. In all cases, intraoperative frozen biopsy revealed disease-free margins, indicating the extent of the resection. Basal cell carcinoma was found in four patients and squamous cell carcinoma in one. There were no complications such as postoperative bleeding or necrosis. Good functional and aesthetic results were achieved. Discussion: The NIF can help in the reconstruction of extensive defects of the nasal ala, tip, columella, and medial dorsum as well as the corner of the eye. We also highlight the more favorable aesthetic aspect of the pedicle in the interpolation island versus transposition flap. Conclusion: The single-stage NIF flap is a reliable option for reconstructing facial segments as it has good vascularization, can be performed in a single surgery, and can be used to cover places where few other reconstructive options are available.

Síndrome de Alagille / Alagille syndrome

Resumen Introducción: El síndrome de Alagille es una enfermedad con múltiples afectaciones, es autosómica dominante, con expresividad variable. Se identifica por manifestaciones hepáticas, vertebrales, cardiacas, oculares y dismorfia facial. Objetivo: Reportar un caso de S. de Alagille con afectación hepática, que debuta con hemorragia de vías digestivas altas. Materiales y métodos: Reporte de caso clínico confrontando con artículos de revisiones de temas en búsqueda electrónica en bases de datos de RIMA, MEDLINE, PUBMED, MEDSCAPE, de 1993-2018. Resultado: Paciente de 2 años, con diagnóstico tardío de enfermedad hepática, con progresión a cirrosis y hallazgos al examen físico que confirman Síndrome de Alagille. Se confirma el diagnóstico molecular coincidiendo con el principal hallazgo genético con anomalías asociadas al gen Jagged 1 (JAG1) localizado en el cromosoma 20 y el NOTCH2 del cromosoma 1. Conclusiones: Es de gran importancia resaltar esta patología infrecuente la cual representa un reto diagnóstico, debe tenerse en cuenta la múltiple afectación orgánica por lo cual es fundamental un manejo interdisciplinario

Abstract Introduction: Alagille syndrome is a disease with multiple impairments, is autosomal dominant with variable expressivity. It is identified by manifestations of vertebral, liver, heart, eye and facial dysmorphia. Objective: Report a case of Alagille S. with hepatic involvement, debuting with hemorrhage of upper digestive tract. Materials and methods: Clinical case report confronting articles reviewing subjects in electronic search in RIMA databases, MEDLINE, PUBMED, MEDSCAPE, from 1993-2018. Result: 2 year old patient, with late diagnosis of liver disease, with progression to cirrhosis and physical exam findings that confirm Alagille Syndrome. Confirmed the diagnostic molecular coinciding with the main genetic finding which are anomalies associated with the gene Jagged 1 (JAG1) located on chromosome 20 and the NOTCH2 of chromosome 1. Conclusions: It is important to highlight this uncommon disease which poses a diagnostic challenge, multiple organic involvement must be taken into account by which an interdisciplinary management is essential.

Demographic and clinical profile of craniofacial clefts at comprehensive rehabilitation service in Uganda

Background: The true incidence of Craniofacial cleft (CFC) is unknown because of their scarcity and because of the difficulty in recognizing sometimes subtle physical findings in mild malformations. Craniofacial anomalies in the African population are reported infrequently. Aim: To contribute to the general literature on rare CFC in Uganda and Africa. Methods: we conducted a retrospective search of patient data over the period 2005 to May 2017 in the unit of plastic surgery of CoRSU (Comprehensive Rehabilitation Service in Uganda) hospital, a tertiary hospital in Uganda. Patient with a diagnosis of CFC were picked out. Sixty-six patient's files with clinical diagnosis of CFC including their clinical photographs were found. Frequency data was generated and a frequency distribution table with the observed data was constructed. Results: Sex distribution showed no significant difference between male and female (1:1,2);the age on admission ranged from 1 day to 83 years; according to the laterality of the cleft, unilateral CFC (left or right side) are more common than midline clefts (Tessier 0; 14; 0,14;30); however, according to the clinical type, Tessier cleft (TC) 0 is the most common TC in our series and is associated with holoprosencephaly. Fifty percent of CFC in our series are syndromic. TC 7 are common in male and have a bilateral predilection. Conclusion: CFC are a rare set of malformations for which there is a paucity of literature. There is a need to conduct a study with a larger series including CT-Scan in order to analyze more accurate clinical diagnosis

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation

O impacto da intervenção fisioterapêutica sobre o desempenho motor e equilíbrio de uma criança com diagnóstico de síndrome do pterígio poplíteo: estudo de caso / The impact of physical therapy intervention on motor performance and balance of a child diagnosed with popliteal pterygium syndrome: case report

A síndrome do pterígio poplíteo (SPP) é uma doença congênita rara cujo tratamento fisioterapêutico visa independência funcional. O objetivo deste estudo foi verificar o efeito de um plano fisioterapêutico sobre a amplitude de movimento, o desempenho motor e o equilíbrio de uma criança com SPP. Menina de 4 anos realizou um programa interventivo com 20 sessões de fisioterapia de 40 minutos cada, uma vez por semana. Para avaliação dos resultados do programa, foram utilizados a Escala de Desenvolvimento Motor, a Escala de Equilíbrio Pediátrica e o Teste de Goniometria Manual. Ao término do período interventivo, e após 1 mês, a criança foi reavaliada, constando-se incrementos no desempenho motor, no equilíbrio e na amplitude de movimento, principalmente na extensão de joelhos. Demais ganhos podem não ter sido alcançados devido à adaptação prévia da criança à sua condição. Os resultados apresentados evidenciam a contribuição da fisioterapia para a melhora da independência funcional e da qualidade de vida do paciente com SPP (AU)

Popliteal pterygium syndrome (PPS) is a rare congenital disease whose physical therapy (PT) treatment aims at functional independence. The objective of this study was to investigate the effect of a PT plan on range of motion, motor performance, and balance of a child with PPS. A 4-year-old girl underwent an interventional program with 20 PT sessions of 40 minutes each, once a week. The Motor Development Scale, the Pediatric Balance Scale, and the Manual Goniometry Test were used to evaluate the results of the program. At the end of the intervention period, and after 1 month, the child was reassessed, showing increases in motor performance, balance, and range of motion, especially in knee extension. Other gains may not have been achieved due to the child's prior adjustment to her condition. The results presented here emphasize the contribution of PT to the improvement of the functional independence and quality of life of patients with PPS (AU)

O desafio do tratamento ortodôntico do paciente com fenótipo facial hiperdivergente / The challenge of the orthodontic treatment of the hyperdivergent facial phenotype patient

Objetivo: o artigo visa informar aos profissionais da área de Ortodontia os desafios de se diagnosticare tratar pacientes que apresentem fenótipo facial hiperdivergente. Materiais e métodos: através de revisão sistemática da literatura, via PubMed e Google Acadêmico, identificou-se os melhores artigos, descritivos e experimentais, nas áreas relacionadas. Dessa seleção, 30 artigos foram revisados e discutidos. Resultados: embora a prevalência de fenótipos faciais hiperdivergentes na população dos EUA (por falta de dados referentes à população brasileira) seja bastante pequena, seu diagnóstico e tratamento são desafiadores. Os principais fatores causais envolvidos em seu desenvolvimento são:a) genéticos; b) epigenéticos e; c) ambientais. A postura mandibular tem um papel fundamental no estabelecimento deste tipo facial, e algumas características morfológicas são patognomônicas: a)excessiva altura facial anterior inferior; b) falta de altura facial posterior; c) ângulo goníaco aberto;d) rotação mandibular desfavorável; e) plano oclusal inclinado anteriormente para baixo; f) sínfisementoniana aumentada e fina e; g) ossos corticais mais delgados, tanto na maxila como na mandíbula.Além disso, esses indivíduos apresentam funções respiratória e mastigatória deficientes. Em geral, apresentam mordida aberta anterior e possivelmente mordida cruzada posterior. Conclusão: o estabelecimento do fenótipo facial hiperdivergente é complexo e multifatorial. A ocorrência de fenômenos morfofuncionais severos sequenciais é difícil de ser controlada ou revertida e as possibilidades terapêuticas são, na melhor das hipóteses, limitadas e ainda experimentais.

Goal: the goal of the paper is to inform orthodontic professionals about the challenges to diagnose and to treat patients presenting hyperdivergent facial phenotype. Materials and methods: a systematic review of the literature was conducted using PubMed and Google Academics, and the best descriptive and experimental studies in the related areas were identified. From the initial selection, 30 papers were revised and discussed. Results: although the prevalence of individuals presenting hyperdivergent facial phenotype in the USA population (since no Brazilian epidemiologic is available) is considerably low, diagnosis and treatment are challenging. The major causal factors involved in its development are: a)genetic; b) epigenetic and; c) environmental. The mandibular posture has a fundamental role in the establishment of such facial type, and some morphological features are pathognomonic: a) excessive inferior anterior facial height; b) lack of posterior facial height; c) increased goniac angle; d) un favorable mandibular rotation; e) occlusal plane anterior ly tilted down; f) higher and thinner mandibular symphysisand; g) thinner maxillary and mandibular cortical bones. Furthermore, these individuals present respiratory and masticatory functions deficiences. In general, they present anterior open bite and possibly posterior cross bite. Conclusion: settling of the hyperdivergent facial phenotype is complex and multifactorial. The occurrence of sequential severe morphofunctional phenomena is hardly controlledor reverted, while therapeutic options are limited and still experimental.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia / Displasia óculo-aurículo-vertebral: aspectos clínicos de 41 pacientes brasileiros

SUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

RESUMO Objetivo: descrever os principais achados clínicos de uma coorte de pacientes com a displasia óculo-aurículo-vertebral (OAV). Método: revisão de prontuários médicos dos pacientes com diagnóstico de OAV no período de 1990 a 2010, acompanhados em um centro de genética médica. Resultados: foram incluídos no estudo 41 pacientes. A média de idade ao diagnóstico foi de 2 anos e 10 meses (34,4±48,8 meses) e a proporção de pacientes do sexo feminino foi de 53,7%. A média de idade dos pais ao nascimento do paciente foi de 28,5±6,9 anos para as mães e 31,4±7,4 anos para os pais. A maioria dos indivíduos (97,5%) possuía acometimento auricular, 90,2% tinham manifestações faciais, 65,9%, vertebrais, 53,7%, oculares, 36,6%, cardiovasculares, 29,3%, urogenitais e 17%, no sistema nervoso central. Além disso, 34% dos pacientes apresentavam a tríade clássica óculo-aurículo-vertebral, e todos os pacientes exceto um apresentavam concomitantemente problemas em outros órgãos ou sistemas. Conclusão: já que o diagnóstico desta entidade é eminentemente clínico, é imprescindível que os médicos das mais diversas especialidades conheçam os achados mais frequentes na OAV. Diante de um paciente com suspeita diagnóstica, deve ser realizada avaliação detalhada de outros órgãos, tanto clínica como por meio de exames complementares. O tratamento é baseado na correção cirúrgica das malformações e na reabilitação.

Correção cirúrgica da macrostomia congênita unilateral e bilateral: relato de casos e revisão da literatura / Surgical correction of unilateral and bilateral congenital macrostomia: a case report and literature review

INTRODUÇÃO: A incidência da microssomia craniofacial é de 1 em 5600 nascidos vivos. É a segunda anomalia craniofacial mais comum após as fissuras labiais e palatinas. A fissura número 7 está associada entre 17 a 62% dos casos de microssomia hemifacial e começa na comissura labial, podendo prolongar-se até a linha capilar pré-auricular. As deformidades da orelha externa vão desde excesso de pele pré-auricular até ausência completa da orelha. A comissuroplastia está indicada em pacientes com macrostomia ou fissura facial lateral verdadeira. O objetivo é demonstrar dois casos de macrostomia e fazer uma revisão da literatura sobre o tema. MÉTODOS: Em nosso estudo descrevemos dois casos de macrostomia tratados com retalhos de mucosa e plástica em Z. RESULTADOS: Obtivemos um ótimo reposicionamento das comissuras nos dois pacientes, com excelente resultado estético. CONCLUSÃO: A técnica utilizada é de fácil reprodutibilidade e corrige a macrostomia estética e funcionalmente.

INTRODUCTION: The incidence of craniofacial microsomia is 1 in 5600 live births. This is the second most common craniofacial anomaly after cleft lip and palate. Tessier cleft 7 is associated with 17% to 62% of cases of hemifacial microsomia. It begins on the labial commissure and may extend to the pre-auricular capillary line. Deformities of the external ear range from excessive pre-auricular skin to complete absence of the ear. Commissuroplasty is indicated in patients with macrostomia or true lateral facial cleft. The objective is to present two cases of macrostomia and perform a review of related literature. METHODS: In this study, we describe two cases of macrostomia treated with mucous flaps and zetaplasty. RESULTS: We obtained optimal repositioning of labial commissures in two patients, with excellent aesthetic results. CONCLUSION: The technique used is easily reproducible, and aesthetically and functionally corrects macrostomia.

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population / Aspectos Clínicos asociados a Fisuras Orofaciales en una población Colombiana

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Objetivos: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. Métodos: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. Resultados: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). Conclusiones: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.

Nasal deformity in subjects with class III facial deformities / Deformidad nasal en sujetos con deformidad facial clase III

Dentofacial deformities present some shades and variations that determine the inclusion of different anatomical components as part of the disease; the aim of this study was to ascertain the nasal characteristics in patients with a Class III dentofacial deformity. A descriptive study was conducted on 20 patients diagnosed with a Class III facial deformity and a surgical indication; frontal and lateral as well as CT images were taken to analyze variables of nasal morphology and deformities associated with the nasal bridge, tip and septum. The results showed that the nasal angles are outside normal parameters and that the basal width of the nose is approximately 3 mm smaller than the intercanthal width; 45% of the subjects have lateral deviations, 50% bridge deformity and 80% septum deviation. It is concluded that there are nasal deformities in subjects with a Class III facial deformity and that this component must be carefully evaluated in the preoperative stage.

Las deformidades dentofaciales presentan algunos matices y variaciones que determinan la inclusión de diferentes componentes anatómicos dentro de la enfermedad; el objetivo de esta investigación es conocer las características de la nariz en pacientes con deformidad dentofacial de clase III. Se desarrollo un estudio descriptivo en 20 pacientes con diagnóstico de deformidad facial declase III e indicación quirúrgica; se estudiaron análisis fotográficos frontales y laterales así como tomografías computadorizadas para analizar variables de morfología nasal y deformidades asociadas al puente nasal, punta nasal y septo nasal. Los resultados demostraron que los ángulos nasales se encuentran fuera de los parámetros de normalidad y que el ancho basal de la nariz es aproximadamente 3 mm menor que el ancho intercantal; el 45% de los sujetos presentó desviación lateral, 50% deformidad del puente nasal y el 80% desvío de septo nasal. Se concluye que existen deformidades nasales en sujetos con deformidad facial de clase III y que este componente debe ser evaluado criteriosamente en la etapa preoperatoria.