Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs × 58) in the MED12 gene was detected. Loss-of-function variants in MED12 in females are associated with Hardikar syndrome (HS). A follow-up ultrasound at 15+5 weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaphragmatic hernia, atrioventricular septal defect, persistent truncus arteriosus, and bilateral renal pelvis dilation. Fetal autopsy confirmed the prenatal sonographic findings, and the MED12 variant was discussed by our multidisciplinary team to be the cause of fetal anomalies. Our case is the first prenatal one in which HS was diagnosed due to first trimester structural malformations. This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.

Cleft Lip With Ankyloblepharon Filiforme Adnatum: A Case Report.

Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors. The right eye was observed to have a fibrous adhesion in the external canthus and was excised during lip plasty. After surgery, her eyes were able to fully open, and no other apparent disease was diagnosed. AFA is thought to be caused by an ectodermal-derived developmental abnormality. Notably, cases of AFA with a cleft lip are rare. Diagnosis and surgery should be performed promptly to minimize any risk of amblyopia and for the early detection of congenital diseases, including glaucoma.

Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia.

The frequency of cleft lip with/without palate (CL/P) in the Mongolian population is approximately 1 in 1314 live births. This research aims to disseminate information about this congenital disability to the public to better understand CL/P, and people's fissures, and review administrative measures, as there is a lack of research in this area. A questionnaire survey was conducted using Google Forms, with 1000 Mongolian participants. Most participants (86.7%) said they had knowledge of the word, whereas 86.2% said they had knowledge of the condition. Most participants' answers were question-related disadvantages of CL/P patients, including statements such as "It's uncomfortable in human relationships" and "It makes an uncomfortable impression on the person you meet the first time." The results of this study revealed that most Mongolians were aware of CL/P and are concerned about patients. However, the causes of CL/P in the general population remain unknown, and further research is needed in this area.

Patterns of primary and secondary defects associated with non-syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population.

Cleft lip and palate deformities substantially burden individuals and families, particularly in low-income communities. However, a comprehensive understanding of the patterns and distribution of these deformities in Kenya remains limited. This retrospective cross-sectional study analyzed 647 clinical records from the BelaRisu Foundation registry in Kenya, spanning 2018-2022. After meticulous record verification and data extraction, cleft pattern modeling was used to analyze each case. Data were imported to SPSS version 29.0 and descriptive statistics were calculated, which included means, ranges, frequencies, percentages, and standard deviations. Additionally, a comparative analysis between genders was conducted. The findings revealed a higher average age of presentation compared with previous studies in Kenya, along with a greater susceptibility of males to cleft lip and palate defects overall. Noteworthy disparities in case distribution across provinces were observed. Cleft lip emerged as the most observed primary defect, while palatal fistulae constituted the most frequent secondary defect. Interestingly, while some results aligned with global trends, others diverged significantly from the existing literature, warranting further exploration and investigation. These findings shed light on the unique patterns and distribution of cleft lip and palate deformities in Kenya, highlighting the need for targeted interventions and support systems.

Adult Tessier cleft 30: technical case report and review of literature.

Atypical facial clefts are rare anomalies that occur due to the failure of embryonic fusion of the branchial arches. The midline mandibular cleft or Tessier 30 cleft is one such rare anomaly. Such anomalies are diagnosed at birth and treated within a few months of age by establishing soft tissue and bony continuity, followed by orthognathic treatment in adulthood. It is very rare for such clefts to go untreated until adulthood. We present one such case report and our technique of management in a patient who presented to us at 25 years of age with a lower lip and mandible cleft with ankyloglossia, which was managed with a single-staged reconstruction.

Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis.

The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non-syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail-Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13-19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86-4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52-1.68. We affirm the upsurging prevalence of CHD in non-syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy-making to screen all non-syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023.

Oral and dental abnormalities in Coffin Siris syndrome : A new case report.

INTRODUCTION: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer. CASE REPORT: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia. Oral and dental anomalies included : bilateral complete cleft lip and palate, delayed eruption of permanent teeth, presence of supernumerary tooth and taurodontism in the first permanent molars. CONCLUSION: Early diagnosis of oral problems and regular follow-up in dentist are necessary to promote good oral health and improve the patient's quality of life.

Itinerário terapêutico de crianças com fissura labiopalatina / Itinerario terapéutico del niño con labio y paladar hendido / Therapeutic itinerary of children with cleft lip and palate

Resumo Objetivo conhecer o itinerário terapêutico de crianças com fissuras de lábio e/ou palato. Método estudo descritivo de natureza qualitativa realizado com famílias de crianças com fissura labiopalatina. A coleta de dados ocorreu entre junho e julho de 2022 por meio de entrevistas semiestruturadas, e aplicou-se a análise de conteúdo temática. Resultados participaram oito famílias e emergiram três categorias: I) Enfrentando o desconhecido: diagnóstico de fissura labiopalatina na criança - notaram-se sentimentos de choque, medo e incerteza que permeiam durante o diagnóstico precoce ou tardio; II) Um caminho árduo: pausas e recomeços durante o itinerário terapêutico - observou-se que as famílias percorreram caminhos diferentes devido à especificidade da configuração familiar e da própria fissura; III) Tecendo a rede de apoio para o cuidado - mostrou-se ser de extrema necessidade o apoio dos amigos, família, profissionais e instituições de saúde. Conclusões e implicações para prática o itinerário terapêutico de crianças com fissura labiopalatina é árduo e acompanhado de desafios, que se iniciam no diagnóstico e permanecem após o nascimento. Espera-se que os resultados deste estudo suscitem o diálogo entre os profissionais de saúde e se familiarizem com as necessidades dessa população e possam atuar nos diferentes pontos de atenção à saúde.

Resumen Objetivo conocer el itinerario terapéutico de los niños con labio hendido y/o paladar hendido. Método estudio cualitativo descriptivo realizado con familias de niños con labio y paladar hendido. La recolección de datos se realizó entre junio y julio de 2022 mediante entrevistas semiestructuradas, y se aplicó análisis de contenido temático. Resultados participaron ocho familias y surgieron tres categorías: I) Frente a lo desconocido: diagnóstico de labio y paladar hendido en niños: se observaron sentimientos de shock, miedo e incertidumbre que permean durante el diagnóstico temprano o tardío; II) Un camino arduo: pausas e inicios durante el itinerario terapéutico - se observó que las familias siguieron caminos diferentes debido a la especificidad de la configuración familiar y de la propia hendidura; III) Tejer la red de apoyo para la atención: el apoyo de amigos, familiares, profesionales e instituciones de salud resultó ser extremadamente necesario. Conclusiones e implicaciones para la práctica el itinerario terapéutico de los niños con labio y paladar hendido es arduo y está acompañado de desafíos, que comienzan desde el diagnóstico y continúan después del nacimiento. Se espera que los resultados de este estudio fomenten el diálogo entre los profesionales de la salud y conozcan las necesidades de esta población y puedan actuar en los diferentes puntos de la atención en salud.

Abstract Objective to understand the therapeutic itinerary of children with cleft lip and/or palate. Method a descriptive qualitative study carried out with families of children with cleft lip and palate. Data collection took place between June and July 2022 through semi-structured interviews, and thematic content analysis was applied. Results eight families participated and three categories emerged: I) Facing the unknown: diagnosis of cleft lip and palate in children - feelings of shock, fear and uncertainty were noted that permeate during early or late diagnosis; II) An arduous path: pauses and beginnings during the therapeutic itinerary - it was observed that the families followed different paths due to the specificity of the family configuration and the cleft itself; III) Weaving the support network for care - support from friends, family, professionals and health institutions proved to be extremely necessary. Conclusions and implications for practice the therapeutic itinerary of children with cleft lip and palate is arduous and followed by challenges, which begin at diagnosis and continue after birth. It is hoped that the results of this study will encourage dialogue among health professionals and become familiar with the needs of this population and be able to act at different points of health care.

The transition of breastfeeding children with cleft palate and lip among women / La transición en la lactancia materna con hendidura labial y palatina / A transição na amamentação de crianças com fenda labial e palatina

Abstract Objective: To discuss the maternal transition in the breastfeeding process of children with cleft lip and palate, from the perspective of the transition theory. Method: Qualitative research of the case study type. The semi-structured interview was used as a data collection instrument. The results were analyzed from the Transition Theory. Results: The participant presented the transitions: situational, developmental and health-illness due to the change of social roles, the need to care for the child with malformation and the changes in her life due to her child's illness. It was identified, in the participant, the difficulty of exercising maternal breastfeeding care, interfering in its developmental and situational transition. Conclusion and implications for practice: The transitions were ineffective in taking into account the transitions covered. The presence of a nursing professional in the evaluation, follow-up and supplementation of the mother in the suckling of children with cleft lip and palate is essential to achieve the healthy transition.

Resumen Objetivo: Discutir la transición materna en el proceso de lactancia del niño con hendidura labial y palatina, en la perspectiva de la teoría de la transición. Método: Investigación cualitativa del tipo estudio de caso. Se utilizó, como instrumento de recolección de datos, la entrevista semiestructurada. Los resultados fueron analizados a partir de la Teoría de la Transición. Resultados: La participante presentó las transiciones: situacional, evolutiva y salud-enfermedad debido al cambio de roles sociales, a la necesidad de cuidar del hijo con malformación y las modificaciones en su vida en función de la enfermedad de su hijo. Se identificó, en la participante, la dificultad de ejercer el cuidado materno de amamantar, interfiriendo en su transición evolutiva y situacional. Conclusión e implicaciones para la práctica: Las transiciones resultaron ineficaces teniendo en cuenta las transiciones recorridas. La presencia de un profesional de enfermería en la evaluación, acompañamiento y suplementación de la madre en la lactancia de hijos con hendidura labiopalatal es imprescindible para lograr la transición sana.

Resumo Objetivo: Discutir a transição materna no processo de amamentação da criança com fenda labiopalatal, na perspectiva da teoria da transição. Método: Pesquisa qualitativa do tipo estudo de caso. Utilizou-se, como instrumento de coleta de dados, a entrevista semiestruturada. Os resultados foram analisados a partir da Teoria da Transição. Resultados: A participante apresentou as transições: situacional, desenvolvimental e saúde-doença devido à mudança de papéis sociais, à necessidade de cuidar do filho com malformação e às modificações em sua vida em função da doença do filho. Identificou-se, na participante, a dificuldade de exercer o cuidado materno de amamentar, interferindo na sua transição desenvolvimental e situacional. Conclusão e implicações para a prática: As transições foram ineficazes levando-se em consideração as transições percorridas. A presença de um profissional de enfermagem na avaliação, acompanhamento e suplementação da mãe na amamentação de filhos com fenda labiopalatal é imprescindível para o alcance da transição saudável.

A descoberta pré-natal da fissura labiopalatina do bebê: principais dúvidas das gestantes / Prenatal discovery of baby's cleft lip and palate: pregnant women's main doubts / El descubrimiento prenatal de la fisura labial y palatina del bebé: principales dudas de las embarazadas

Objetivo: identificar as principais dúvidas de gestantes com diagnóstico pré-natal do bebê de fissura de lábio e/ou palato. Método: estudo descritivo, retrospectivo, quantitativo. A amostra foi composta por 15 de gestantes atendidas na consulta de enfermagem, em 2016, numa instituição pública paulista. Para a coleta de dados, utilizou-se instrumento institucional após aprovação do projeto por Comitê de Ética em Pesquisa. As dúvidas foram categorizadas como alimentação, higiene, protocolo cirúrgico, hipótese diagnóstica, pós-operatório e sofrimento/bullying. Os resultados foram submetidos à análise estatística descritiva. Resultados: idade média materna de 30 anos (±5,9), paterna de 31 anos (±10,4). Predomínio das seguintes características: classificação socioeconômica média inferior ­ 8 (53%); escolaridade dos progenitores, ensino superior completo ­ 15 (52%); bebês do sexo masculino ­ 11 (73%); diagnósticos de Fissura Transforame Unilateral Esquerda ­ 7 (47%). Salientaram-se dúvidas sobre: alimentação ­ 15 (100%) e higiene ­ 9 (60%). Conclusão: as principais dúvidas das gestantes foram sobre alimentação e higiene. Identificá-las permitiu direcionar as orientações para as necessidades reais dessa clientela.

Objective: to identify pregnant women's main doubts at prenatal diagnosis of baby's cleft lip and/or palate. Method: this retrospective, quantitative, descriptive study considered a sample of 15 pregnant women attending nursing appointments in 2016 at a public institution in São Paulo. After the project was approved by the research ethics committee, data were collected using an institutional instrument. Doubts were categorized into feeding, hygiene, surgical protocol, diagnostic hypothesis, postoperative care and suffering/bullying. The results were subjected to descriptive statistical analysis. Results: the mothers' mean age was 30 (±5.9) years, the fathers' mean was 31 (±10.4) years. The following features predominated: low mean socioeconomic position ­ 8 (53%); higher education ­ 15 (52%); male babies ­ 11 (73%); left unilateral transforaminal cleft ­ 7 (47%). Doubts were raised on: food ­ 15 (100%) and hygiene ­ 9 (60%). Conclusion: the pregnant women's main doubts were about food and hygiene. Identifying them made it possible to adjust guidelines to this clientele's real needs.

Objetivo: identificar las principales dudas de mujeres embarazadas con diagnóstico prenatal del bebé de fisura de labio y/o palatina. Método: estudio descriptivo, retrospectivo, cuantitativo. La muestra se compuso de 15 mujeres embarazadas atendidas en la consulta de enfermería, en 2016, en una institución pública de São Paulo. Para la recolección de datos se utilizó un instrumento institucional después de la aprobación del proyecto por el Comité de Ética en Investigación. Las dudas se categorizaron como alimentación, higiene, protocolo quirúrgico, hipótesis diagnóstica, postoperatorio y sufrimiento/bullying. Los resultados se sometieron al análisis estadístico descriptivo. Resultados: promedio de edad materna de 30 años (±5,9), paterna de 31 años (±10,4). Predominio de los siguientes aspectos: clasificación socioeconómica media inferior ­ 8 (53%); escolaridad de los progenitores, enseñanza universitaria completa ­ 15 (52%); bebés de sexo masculino ­ 11 (73%); diagnósticos de Fisura Transforamen Unilateral Izquierda ­ 7 (47%). Se destacaron dudas sobre: alimentación ­ 15 (100%) e higiene ­ 9 (60%). Conclusión: las principales dudas de las embarazadas se basaron en alimentación e higiene. Identificarlas permitió consucir las orientaciones hacia las necesidades reales de esa clientela.

Síndrome de Pai: dos nuevos casos con manifestaciones inusuales / Pai syndrome: Two new cases with unusual manifestations

El síndrome de Pai se describe como la presencia de 3 anomalías congénitas: fisura de labio medial, pólipos cutáneos nasales y faciales, y lipoma pericallosal. La expresión clínica es variable. El desarrollo neuromadurativo suele ser normal. Existen 42 casos descritos en la literatura. Se proponen distintos tipos de herencia, pero, hasta la actualidad, no existe un gen asignado para esta patología. Se presentan dos pacientes con síndrome de Pai, uno de ellos con hallazgos clínicos aún no descritos (defectos de segmentación vertebral y osteoma coroideo).

Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma.

Sucesso de enxertos ósseos complementares em fissuras labiopalatinas e sobrevivência de implantes dentários / Success of compementary bone grafts in patients with cleft lip and palate and survival of dental implants

Este estudo teve por objetivo monitorar a eficácia de implantes dentais inseridos em áreas receptoras de re-enxerto autógeno (enxerto em bloco intraoral) e identificar os fatores de risco relevantes para o prognóstico em pacientes com fissuras labiopalatinas. Foi realizado um levantamento retrospectivo das informações clínicas registradas nos prontuários dos pacientes do Hospital de Reabilitação de Anomalias Craniofaciais (USP), de 1999 até os casos finalizados em abril de 2009. Foram avaliados os prontuários de 161 pacientes, de ambos os sexos, submetidos à cirurgia de enxerto ósseo em bloco para complementação óssea em volume e/ou altura para posterior instalação de implante, na região da fissura ou fora dela. Os enxertos foram obtidos de ramo mandibular ou mento. Em 161 pacientes foram realizados 211 enxertos ósseos intraorais autógenos, sendo 2% destes realizados com finalidade de auxiliar a movimentação ortodôntica. Foram instalados 160 implantes nessas áreas, em 76% dos blocos, visto que 22% dos enxertos ósseos autógenos falharam antes mesmo da instalação de implantes. Considerando a sobrevivência dos implantes instalados nas áreas enxertadas, 15% dos implantes foram removidos por falta de osteointegração, resultando em uma taxa de sobrevivência equivalente a 85% nos blocos bem-sucedidos. Embora a sobrevivência dos implantes em áreas de re-enxerto seja compatível com outros relatos na literatura, tais implantes apresentaram maiores falhas do que implantes instalados em áreas de fissura que receberam apenas enxerto ósseo alveolar secundário (AU).

This study aimed to monitor dental implants efficacy inserted in regrafted areas with autogenous bone (intra-oral block grafts) and to identify relevant risk factors for cleft lip and palate patients prognosis. A retrospective research collected clinical information registered in the medical records of Craniofacial Anomalies Rehabilitation Hospital - São Paulo University (HRAC-USP) from 1999 up to the April 2009. A hundred and sixty-one patient's records were evaluated, of both sexes, submitted to block bone graft surgery for bone complementation in volume and/or height for further implant installation, in the cleft region or out of it. Grafts were taken either from mandibular branch or chin. Two hundred and eleven intraoral autogenous block bone grafts were done in a hundred and sixty-one patients, 2% of these with the aim of orthodontic movement support. A hundred and sixty implants were installed in these areas, in 76% of the blocks as 22% of the autogenous bone grafts failed before implant installation. Considering implant survival rates in grafted areas, 15% of the implants were removed due to lack of osseointegration, resulting in a successful survival rate of 85% for successful bone blocks. Although implant survival rates in regrafted areas are compatible with other literature records, these implants had greater failure rates if compared to those of cleft areas that received only secondary alveolar bone grafting (AU).

Anomalías craneofaciales / Craniofacial anomalies

Las anomalías craneofaciales son un grupo de defectos congénitos que afectan, en distinto grado, el desarrollo de las estructuras óseas y tejidos blandos de la región craneofacial. incluyen un grupo de condiciones muy heterogéneas y que pueden estar asociadas con numerosos síndromes. la importancia de este grupo de patologías radica en su gran impacto a nivel funcional y estético, ya que pueden condicionar trastornos a nivel de las vías aéreas superiores, nutricionales, auditivos, del desarrollo del lenguaje y odontológicos, por lo que en la mayoría de los casos requieren de un manejo por un equipo multidisciplinar

Craniofacial anomalies are a group of birth defects that affect, in varying degrees, the development of bone structures and soft tissues of the craniofacial region. they include a variety of heterogeneous conditions and may be associated with many syndromic conditions. the importance of this group of diseases lies in its great impact to aesthetic and functional level, since they can condition disorders of the upper airways, nutritional status, hearing, language development and dental development, because of that, in the majority of cases require management by a multidisciplinary team

Premaxilla: an independent bone that can base therapeutics for middle third growth!

ABSTRACT Premaxilla, in its early descriptions, had the participation of Goethe. In our face, in a certain period of growth and development processes, premaxilla is an independent and, then, a semi-independent bone to finally be totally integrated to the maxilla. Formation of the premaxilla acts as a stabilization element inside the facial skeleton comparable to the cornerstone of a Roman arch and is closely related to the development of human face and its abnormal growth with characteristic malformations. Until when the premaxillary-maxillary suture remains open and offers opportunities to orthopedically influence facial growth to exert influence over facial esthetics and function? Contact with preliminary results in 1183 skulls from anatomic museums at USP, Unicamp and Unifesp led us to question therapeutic perspectives and its clinical applicability.

RESUMO A descrição inicial da pré-maxila teve a participação de Goethe. Na face, em determinado período do crescimento e desenvolvimento, têm-se a pré-maxila como um osso independente e, depois, semi-independente para, finalmente, se integrar totalmente à maxila. A formação da pré-maxila atua como um elemento estabilizador dentro do esqueleto facial, comparável com a pedra angular de um arco romano, e está intimamente relacionada com o desenvolvimento da face humana e seu crescimento anormal, com malformações características. Até quando a sutura pré-maxilar-maxilar continua aberta e oferece oportunidades para se influenciar ortopedicamente o crescimento facial e modificar a estética e função da face? O contato com estudos preliminares em 1.183 crânios de museus anatômicos da USP, Unicamp e Unifesp nos induziu a questionar sobre as perspectivas terapêuticas e aplicabilidades clínicas.

Síndrome de Haberland con afectación ocular bilateral / Haberland syndrome with bilateral ocular involvement

El síndrome de Haberland o lipomatosis encefalocraneocutánea es un síndrome muy infrecuente caracterizado por la tríada clásica de afectación cutánea, ocular y del sistema nervioso central. Fue descrito por primera vez en 1970 por Haberland y Perou, habiéndose descrito unos 60 casos desde entonces. Presentamos un caso de un varón de 14 semanas diagnosticado de síndrome de Haberland con afectación ocular bilateral en forma de coloboma palpebral y coristomas

Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system. It was first described in 1970 by Haberland and Perou, with about 60 cases having been reported since then. A case is reported of a 14-week-old male diagnosed with Haberland syndrome with bilateral ocular involvement in the form of palpebral coloboma and choristomas

Nasal and lip polyps: Pai syndrome / Pólipos nasales y labiales: síndrome de Pai

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Repair of complete bilateral cleft lip with severely protruding premaxilla performing a premaxillary setback and vomerine ostectomy in one stage surgery

BACKGROUND: The authors present a technique for selected cases of CBCL. The primary repair of the CBCL with a severely protruding premaxilla in one stage surgery is very difficult, essentially because a good muscular apposition is difficult, forcing synchronously to do a premaxillary setback to facilitate subsequent bilateral lip repair and, thus, achieving satisfactory results. We achieve this by a reductive ostectomy on the vomero-premaxillary suture. MATERIAL AND METHODS: 4 patients with CBCL and severely protruding premaxilla underwent premaxillary setback by vomerine ostectomy at the same time of lip repair in the past 24 months. The extent of premaxillary setback varied between 9 and 16 mm. The required amount of bone was removed anterior to the vomero-premaxillary suture. The authors did an additional simultaneous gingivoperiosteoplasty in all patients, achieving an enough stability of the premaxilla in its new position, to be able to close the alveolar gap bilaterally. The authors have examined the position of premaxilla and dental arch between 6 and 24 months. We did not do the primary nose correction, because this increased the risk of impairment of the already compromised vascularity of the philtrum and premaxilla. RESULTS: The follow-up period ranged between 6 and 24 months. None of the patients had any major complication. During follow-up, the premaxilla was minimally mobile. We achieved a good lip repair in all cases: adequate muscle repair, symmetry of the lip, prolabium and Cupid's bow, as well as good scars. CONCLUSIONS: To our knowledge, there are few reports of one stage surgery with vomerine ostectomy to repair CBCL with severely protruding premaxilla. Doing this vomerine ostectomy, we don't know how it will affect the subsequent growth of the premaxila and restrict the natural maxillary growth. Applying this alternative treatment for children with CBCL and protruded premaxilla without any preoperative orthopedic, we can successfully perform, in a single-stage surgery, a good primary lip repair at our center. Further confirmations of this surgery with follow up and anthropometric studies of these patients during childhood and adolescence are required

Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. MATERIAL AND METHODS: Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. RESULTS: By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. CONCLUSIONS: We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P

Manejo quirúrgico de la aplasia cutis congénita / Surgical management of aplasia cutis congenita

Introducción: La aplasia cutis congénita (ACC) es una malformación congénita rara que afecta sobre todo al cuero cabelludo, aunque puede afectar al pericráneo, el cráneo y la meninges. Las complicaciones pueden llegar a ser fatales, por lo que es necesario un tratamiento oportuno. El tratamiento sigue siendo controvertido, sin encontrar un consenso entre el abordaje conservador y el quirúrgico. El objetivo de este estudio es describir nuestra experiencia en el manejo de la ACC. Material y métodos: Estudio descriptivo retrospectivo de las historias clínicas de los pacientes menores de 14 años con diagnóstico de ACC, atendidos entre el año 2000 y el 2013. Resultados: Veintidós casos de ACC con lesiones que variaban de 1cm (0,79 cm2) a 14cm (153,94 cm2). Dieciocho casos presentaron lesiones en el cuero cabelludo, 3 en extremidades y uno en tronco. Se realizó tratamiento conservador en 9 y quirúrgico en 13 (8 cierres primarios, 2 plastias, 2 injertos cutáneos y un colgajo). Dos pacientes fallecieron por complicaciones de otras patologías no asociadas a la ACC. Conclusiones: La ACC es infrecuente y puede tener un desenlace fatal. Para prevenirla es necesaria una evaluación inicial completa para establecer un tratamiento oportuno. La cirugía es una buena opción terapéutica, sobre todo en defectos con diámetro>4cm (12,6 cm2), ya que disminuye el riesgo de complicaciones mortales (AU)

Introduction: Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC. Material and methods: Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013. Results: There were a total of 22 cases of ACC with lesions ranging from 1cm (0.79 cm2) to 14cm (153.94 cm2). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC. Conclusions: ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4cm (>12.6 cm2) as it prevents the risk of fatal complications (AU)