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1.
Congenit Anom (Kyoto) ; 64(2): 40-46, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38308585

RESUMO

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.


Assuntos
Fenda Labial , Fissura Palatina , Feminino , Humanos , Fenda Labial/diagnóstico , Fenda Labial/epidemiologia , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Mongólia/epidemiologia , Inquéritos e Questionários
3.
Cleft Palate Craniofac J ; 61(1): 155-158, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-36377243

RESUMO

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.


Assuntos
Fenda Labial , Fissura Palatina , Anormalidades do Olho , Anormalidades da Boca , Humanos , Feminino , Fenda Labial/cirurgia , Fenda Labial/diagnóstico , Fissura Palatina/cirurgia , Fissura Palatina/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/cirurgia , Aderências Teciduais
4.
Esc. Anna Nery Rev. Enferm ; 28: e20230090, 2024. tab
Artigo em Português | LILACS, BDENF - Enfermagem | ID: biblio-1534456

RESUMO

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.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Adulto , Adulto Jovem , Cuidado da Criança , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Pesquisa Qualitativa
5.
Orv Hetil ; 164(46): 1831-1837, 2023 Nov 19.
Artigo em Húngaro | MEDLINE | ID: mdl-37980600

RESUMO

The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic disorder that is inherited as an autosomal dominant trait, but can also occur sporadically. It is characterized by the triad of ectrodactyly (absence of fingers), ectodermal dysplasia and cleft lip and palate along with variable involvement of other organs. Both the ectodermal and mesodermal tissues may be affected resulting in a spectrum of phenotypes. Early diagnosis and treatment signify a unique challenge for those involved in the clinical management, while enable counseling and preparation of parents for the tasks ahead of them. In our report, we describe the case of a patient with sporadic EEC syndrome. In addition to the presentation of the complex phenotype along with the medical interventions, we summarize the most important characteristics of the disease, the diagnostic and therapeutic possibilities as well as the clinical significance of the accurate genetic verification. Using whole exome sequencing, we identified in the 3q28 chromosomal region a pathogenic mutation within the TP63 gene previously linked to the EEC3 phenotypes. The knowledge of pathogenic mutation provides the means to prenatal diagnostics or in vitro fertilization methods that allows us to minimize the possibility of inheriting the syndrome in the patient's offspring. By presenting our case, we aim to draw attention to this rare and disabling disease that requires the high quality works of a multidisciplinary team capable of ensuring good quality of life for the patient. Orv Hetil. 2023; 164(46): 1831-1837.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Feminino , Gravidez , Humanos , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Qualidade de Vida , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética
6.
Andes Pediatr ; 94(1): 37-44, 2023 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-37906869

RESUMO

OBJECTIVE: To describe the presence of obstructive sleep apnea syndrome (OSAS) in children with craniofacial anomalies (CFA), associate biodemographic characteristics and polygraph variables, and analyze the therapeutic management decided after the sleep study and the evaluation by a multidisciplinary team. PATIENTS AND METHOD: Retrospective study. Polygraphs were performed on patients aged between 1 month and 19 years with CFA. An initial and projected management was established categorized into ventilatory support, tracheostomy, surgery, dental, and medical treatment. Descrip tive and inferential statistics were performed, evaluating the association between demographic and polygraph variables and therapeutic management. RESULTS: 34 patients were included with a median age of 4.0 years (IQR 0.9 - 6.5). Diagnosis was 41.2% cleft lip and palate, 35.3% craniosynostosis, and 23.5% micrognathia. Polygraphs were altered in 70.6% of the cases; of these, 26.5% were diagnosed as mild, 5.9% moderate, and 38.2% severe OSAS. There was an association between minimum satu ration and diagnosis of OSAS (p = 0.0036), and in the presence of OSAS with the initial management applied (p=0.0013). There was no significant relationship between the different types of CFA with the initial therapeutic management (p = 0.6565). Initial and projected managements, respectively: Venti latory support (11.8% and 2.9%), tracheostomy (11.8% and 0%), surgery (35.2% and 26.5%), dental (20.6% and 53%), and medical treatment (20.6% and 17.6 %). CONCLUSIONS: 70% of the patients with CFA presented OSAS. The greatest severity was found in Cleft Lip and Palatine and Craniosynostosis. Therapeutic management was mainly oriented towards initial surgical and planned dental treatments based on the diagnosis of OSAS and not on the type of CFA.


Assuntos
Fenda Labial , Fissura Palatina , Craniossinostoses , Apneia Obstrutiva do Sono , Humanos , Criança , Adolescente , Lactente , Pré-Escolar , Fenda Labial/diagnóstico , Fenda Labial/cirurgia , Estudos Retrospectivos , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/terapia , Craniossinostoses/complicações , Craniossinostoses/diagnóstico , Craniossinostoses/cirurgia , Sono
7.
Isr Med Assoc J ; 25(10): 678-682, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37846996

RESUMO

BACKGROUND: Fetal facial clefts are among the most common congenital anomalies detected prenatally. This finding may lead to termination of pregnancy in some cases. OBJECTIVES: To compare a cohort of fetuses with facial clefts in which the pregnancy was terminated to the cohort of cases that were born with facial clefts. To investigate risk factors for facial clefts. METHODS: We conducted a retrospective chart review of all women with prenatal and postnatal diagnosis of facial cleft that were managed in our institute. A telephone questionnaire was conducted regarding a positive family history and/or genetic predisposition for facial clefts abnormalities. RESULTS: The final cohort consisted of two group. One group included 54 cases of termination of pregnancy (TOP) that were performed due to cleft lip (CL) or cleft palate (CLP); 27 women answered the telephone questionnaire. The second group comprised 99 women who delivered children with facial cleft during the same period; 60 answered the questionnaire. Only seven cases were diagnosed prenatal. Among the two groups, no correlation to family history was discovered. Of note, there was one case of three consecutive fetuses with CL in one woman, without any significant genetic findings. CONCLUSIONS: To the best of our knowledge, this is the first study to describe an anatomical malformation posing an ethical dilemma before TOP. Primary prevention with folic acid and early sonographic detection of CL/CLP with multidisciplinary consultation should be considered.


Assuntos
Aborto Induzido , Fenda Labial , Fissura Palatina , Gravidez , Criança , Humanos , Feminino , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Fenda Labial/diagnóstico , Fenda Labial/epidemiologia , Fenda Labial/genética
8.
Prenat Diagn ; 43(10): 1310-1319, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37552068

RESUMO

Cleft lip and/or palate (CL/CP) is the most common congenital craniofacial anomaly and parents often ask, "how did this happen?" Patients and families may benefit from access to a multidisciplinary team (MDT) from prenatal diagnosis into early adulthood. Multiple factors can contribute to the development of a cleft. We discuss the epidemiology and risk factors that increase the likelihood of having a newborn with a cleft. The purpose of this article is to review the prenatal investigations involved in the diagnosis and workup of these patients in addition to postpartum treatment, prognostic factors, and counseling families regarding future recurrence risk.


Assuntos
Fenda Labial , Fissura Palatina , Recém-Nascido , Gravidez , Feminino , Humanos , Adulto , Fenda Labial/diagnóstico por imagem , Fenda Labial/epidemiologia , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Estudos Prospectivos , Diagnóstico Pré-Natal , Pais/psicologia
9.
Med Trop Sante Int ; 3(2)2023 06 30.
Artigo em Francês | MEDLINE | ID: mdl-37525684

RESUMO

Cleft palate is the absence of the vault of the mouth resulting in communication between the nose and the mouth. The current frequency of cleft is 0.3% among black people. The incriminated etiological factors of this congenital malformation are exogenous and genetic. The diagnostic is clinical and above all marked by the consequences linked to the cleft, which are multiple morphological problems entailing difficulties from the first days of life (sackling impossible in the event of total cleft lip and palate), functional disorders linked to cleft velopalatine by bucco-nasal reflux, major phonation disorder, dysfunction of the Eustachian tubes causing hearing and otorhinolaryngology (ORL) disorders, breathing disorders. Thanks to the progress of ultrasound, the diagnosis can sometimes be made during pregnancy. Obstetric ultrasound can diagnose cleft lip and palate from the 16th week of amenorrhea. The Veau-Wardill classification based on embryology makes it possible to understand the different types.The care is now organized in a multidisciplinary frameware where the coordination of each specialty will make it possible to harmonize the different treatments. The current attitude is based on the principe of early management to restore the functionality of the velopalatine muscle straps as quickly as possible, reducing the risk of phonatory and auditory sequelae.Concerning cleft palates, the data are fragmented and almost non-existent in the Central African Republic, hence the interest in publishing this clinical case highlighted by chance. We report a clinical case of neglected cleft palate in a 13-year-old girl discovered during a cleft lip and palate screening campaign at the Pediatric University Hospital of Bangui.


Assuntos
Fenda Labial , Fissura Palatina , Feminino , Criança , Humanos , Adolescente , Fissura Palatina/diagnóstico , Fenda Labial/diagnóstico , República Centro-Africana/epidemiologia , Nariz , Hospitais
10.
J Craniofac Surg ; 34(6): 1766-1771, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37526200

RESUMO

OBJECTIVE: Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. METHODS: The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. RESULTS: Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis ( P =0.021) and the performance of velopharyngeal insufficiency surgery ( P =0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. CONCLUSIONS: Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.


Assuntos
Fissura Palatina , Doenças Nasais , Insuficiência Velofaríngea , Humanos , Criança , Pré-Escolar , Lactente , Fissura Palatina/diagnóstico , Fala , Estudos Retrospectivos , Resultado do Tratamento , Palato Mole/cirurgia
11.
Genet Med ; 25(10): 100918, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37330696

RESUMO

PURPOSE: Orofacial clefts (OFCs) are common birth defects including cleft lip, cleft lip and palate, and cleft palate. OFCs have heterogeneous etiologies, complicating clinical diagnostics because it is not always apparent if the cause is Mendelian, environmental, or multifactorial. Sequencing is not currently performed for isolated or sporadic OFCs; therefore, we estimated the diagnostic yield for 418 genes in 841 cases and 294 controls. METHODS: We evaluated 418 genes using genome sequencing and curated variants to assess their pathogenicity using American College of Medical Genetics criteria. RESULTS: 9.04% of cases and 1.02% of controls had "likely pathogenic" variants (P < .0001), which was almost exclusively driven by heterozygous variants in autosomal genes. Cleft palate (17.6%) and cleft lip and palate (9.09%) cases had the highest yield, whereas cleft lip cases had a 2.80% yield. Out of 39 genes with likely pathogenic variants, 9 genes, including CTNND1 and IRF6, accounted for more than half of the yield (4.64% of cases). Most variants (61.8%) were "variants of uncertain significance", occurring more frequently in cases (P = .004), but no individual gene showed a significant excess of variants of uncertain significance. CONCLUSION: These results underscore the etiological heterogeneity of OFCs and suggest sequencing could reduce the diagnostic gap in OFCs.


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Alelos , Mapeamento Cromossômico , Fatores Reguladores de Interferon/genética
12.
Genes (Basel) ; 14(6)2023 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-37372427

RESUMO

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis. Mutation analysis of the TP63 gene detected a de novo missense mutation in exon 14 (c.1799G>T; p.Gly600Val). We discuss the phenotype-genotype correlation by presenting the clinical features of AEC in the patient, and the effect of the detected mutation in p63 structure and function using protein structural modeling, in view of similar cases in the literature. We performed a molecular modeling study in order to link the effect on the protein structure level of the missense mutation G600V. We noted that the introduction of the bulkier Valine residue in place of the slim Glycine residue caused a significantly altered 3D conformational arrangement of that protein region, pushing away the adjacent antiparallel α helix. We propose that the introduced locally altered structure of the G600V mutant p63 has a significant functional effect on specific protein-protein interactions, thus affecting the clinical phenotype.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Humanos , Fenda Labial/genética , Fenda Labial/patologia , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Fissura Palatina/patologia , Fatores de Transcrição/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Proteínas Supressoras de Tumor/genética , Estudos de Associação Genética
13.
Cornea ; 42(9): 1172-1175, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37351863

RESUMO

PURPOSE: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. We present ocular findings and their treatment in patients with EEC. METHODS AND RESULTS: We report on 3 female patients (aged 59, 45, and 11 years) suffering from EEC with varying extraocular and ocular severity of phenotypic expression of the disease. Slit-lamp biomicroscopy, visual acuity, and medical treatment were evaluated over 4 months to 4 years. All patients experienced visual impairment and foreign body sensation. Examination revealed bilateral chronic blepharitis, dry eye syndrome, and corneal vascularization and clouding due to limbal stem cell deficiency (LSCD). Patient #1 presented a corneal ulcer with severe stromal thinning on the right eye. Allogeneic simple limbal epithelial transplantation (allo SLET), penetrating keratoplasty combined with allo SLET, and in total 5 amniotic membrane transplantation were performed to preserve the integrity of the eye. In patients #2 and #3, conservative therapy with lubricant eye drops, topical steroids, and antibiotics was sufficient to stabilize LSCD. In all cases, corneal epithelialization and improvement of visual acuity were achieved. CONCLUSIONS AND IMPORTANCE: To the best of our knowledge, this is the first report of surgical treatment in a patient with EEC. Allo SLET may be a surgical option to treat LSCD associated with EEC.


Assuntos
Fenda Labial , Fissura Palatina , Doenças da Córnea , Displasia Ectodérmica , Deficiência Límbica de Células-Tronco , Limbo da Córnea , Humanos , Feminino , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Fenda Labial/diagnóstico , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/cirurgia , Displasia Ectodérmica/complicações , Doenças da Córnea/diagnóstico , Doenças da Córnea/cirurgia , Doenças da Córnea/genética , Transplante de Células-Tronco/métodos
14.
Front Cell Infect Microbiol ; 13: 1159455, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37143743

RESUMO

Orofacial cleft disorders, including cleft lip and/or palate (CL/P), are one of the most frequently-occurring congenital disorders worldwide. The health issues of patients with CL/P encompass far more than just their anatomic anomaly, as patients with CL/P are prone to having a high incidence of infectious diseases. While it has been previously established that the oral microbiome of patients with CL/P differs from that of unaffected patients, the exact nature of this variance, including the relevant bacterial species, has not been fully elucidated; likewise, examination of anatomic locations besides the cleft site has been neglected. Here, we intended to provide a comprehensive review to highlight the significant microbiota differences between CL/P patients and healthy subjects in various anatomic locations, including the teeth inside and adjacent to the cleft, oral cavity, nasal cavity, pharynx, and ear, as well as bodily fluids, secretions, and excretions. A number of bacterial and fungal species that have been proven to be pathogenic were found to be prevalently and/or specifically detected in CL/P patients, which can benefit the development of CL/P-specific microbiota management strategies.


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Fenda Labial/diagnóstico , Fenda Labial/epidemiologia , Fenda Labial/patologia , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Fissura Palatina/patologia , Cavidade Nasal
15.
J Neonatal Perinatal Med ; 16(2): 349-353, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37182847

RESUMO

EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Atresia Esofágica , Hipospadia , Tetralogia de Fallot , Humanos , Recém-Nascido , Fenda Labial/genética , Fenda Labial/diagnóstico , Fissura Palatina/genética , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/complicações , Atresia Esofágica/diagnóstico , Atresia Esofágica/genética , Atresia Esofágica/complicações , Hipospadia/diagnóstico , Hipospadia/genética , Hipospadia/complicações , Mutação , Tetralogia de Fallot/complicações , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética
16.
Eye Contact Lens ; 49(6): 262-265, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37053073

RESUMO

ABSTRACT: This case report highlights the unique application and long-term benefits of customized scleral devices in a patient with ocular complications from ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome over the span of 10 years. A 13-year-old girl with a history of EEC syndrome and ocular manifestations, including severe bilateral dry eye disease, corneal neovascularization and scarring, progressive fibrous pannus, and limbal stem cell deficiency, was examined and fitted with scleral devices. The goal of treatment was to stabilize the ocular surface, enhance vision, and improve ocular comfort. Throughout the course of treatment, there was minimal progression in ocular signs, despite interruptions in scleral device wear from application and removal challenges secondary to ectrodactyly. Customized scleral devices provided an optimal environment to support the ocular surface, improve comfort, and improve visual acuity. Further studies are required to demonstrate the benefits of scleral devices in larger populations of patients with EEC syndrome.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Feminino , Humanos , Criança , Fenda Labial/complicações , Fenda Labial/diagnóstico , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/terapia
17.
Eur J Pediatr ; 182(5): 2197-2204, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36862223

RESUMO

A cleft lip and/or palate (CL/P) is one of the most common craniofacial malformations, occurring worldwide in about one in 600-1000 newborn infants. CL/P is known to influence the feeding process negatively, causing feeding difficulties in 25-73% of all children with CL/P. Because there is a risk for serious complications in these children regarding feeding difficulties, there is often a need for intensive medical counseling and treatment. At this moment, adequate diagnosis and measurement remain a challenge and often lead to a delayed referral for professional help. Since parents play a big part in reporting feeding difficulties, it is important to help objectify parents' experiences, as well as the use of a frontline screening instrument for routine check-ups during medical appointments. The aim of this study is to investigate the relationship between parent perspective and standardized observation by medical professionals on feeding difficulties in 60 children with and without clefts at the age of 17 months. We focus on the information from parents and health professionals by comparing the Observation List Spoon Feeding and the Schedule for Oral Motor Assessment with the validated Dutch translation of the Montreal Children's Hospital Feeding Scale.  Conclusion: There is a need for timely and adequate diagnosis and referral when it comes to feeding difficulties in children with CL/P. This study underscores the importance of combining both parental observations and measurements of oral motor skills by healthcare professionals to enable this. What is Known: • Early identification of feeding difficulties can prevent adversely affected growth and development. • Clefts increase the probability of feeding difficulties; however, the diagnostic trajectory is unclear. • The Observation List Spoon Feeding (OSF) and Schedule for Oral Motor Assessment (SOMA) are validated to measure oral motor skills. The Montreal Children's Hospital Feeding Scale Dutch version (MCH-FSD) has been validated for the parental perception of infant feeding difficulties. What is New: • Parents of children with CL/P experience relatively few feeding problems in their child on average. • Oral motor skills for spoon feeding are associated with oral motor skills for solid foods in children with CL/P. • The extent of the cleft is associated with experiencing more feeding difficulties in children with CL/P.


Assuntos
Fenda Labial , Fissura Palatina , Lactente , Recém-Nascido , Criança , Humanos , Fenda Labial/complicações , Fenda Labial/diagnóstico , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Pais , Destreza Motora
18.
HNO ; 71(4): 276-284, 2023 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-36897341

RESUMO

With a frequency of 1 per 500 live births, a cleft lip and palate is one of the most frequent congenital malformations. Untreated, it leads to disturbances in feeding, speech, hearing, tooth position and esthetics. A multifactorial genesis is assumed. The fusion of the different facial processes takes place in the first 3 months of pregnancy and a cleft can develop during this time. Surgical treatment includes the early anatomical and functional restoration of the affected structures within the first year of life in order to enable normal intake of food, articulation, nasal breathing and middle ear ventilation. Breastfeeding is possible in children with a cleft formation but alternative feeding methods, such as finger feeding, often have to be used. In addition to the surgery for primary closure of the cleft, otorhinolaryngological (ENT) interventions, speech therapy, orthodontic treatment as well as other surgical interventions are part of the interdisciplinary treatment concept.


Assuntos
Fenda Labial , Fissura Palatina , Criança , Gravidez , Feminino , Humanos , Fenda Labial/diagnóstico , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Nariz , Fala
19.
Am J Med Genet A ; 191(5): 1227-1239, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36751037

RESUMO

AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOTL1 variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals with variants in AMOTL1 affecting amino acids 157-161, a functionally undefined but highly conserved region. Three individuals with AMOTL1 variants outside this region are also described who had variable presentations with orofacial clefting and multi-organ disease. Our case cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157-161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.


Assuntos
Fenda Labial , Fissura Palatina , Cardiopatias Congênitas , Humanos , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Fenda Labial/diagnóstico , Fenda Labial/genética , Mutação , Mutação de Sentido Incorreto/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Angiomotinas
20.
Pediatr Ann ; 52(1): e18-e22, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36625796

RESUMO

Children who have cleft and craniofacial diagnoses require coordinated, interdisciplinary treatment planning from birth to young adulthood. Teams that adhere to the Parameters of Care and maintain annual review by the American Cleft Palate Craniofacial Association Commission on Approval of Teams are published at www.acpa-cpf.org to assist families in obtaining that care. The six critical components to this interdisciplinary care focus on the team's composition, the team's management and responsibilities, the inclusion of patient and family/caregiver communication, an ongoing commitment to cultural competence, the importance of psychosocial and social services provided for the child and family, and the dedication to outcomes assessment. Primary care physicians are in a unique position to help direct families to this online directory for the best possible outcomes. [Pediatr Ann. 2023;52(1):e18-e22.].


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Criança , Estados Unidos , Adulto Jovem , Adulto , Fenda Labial/diagnóstico , Fenda Labial/terapia , Fissura Palatina/diagnóstico , Fissura Palatina/terapia , Atenção à Saúde , Avaliação de Resultados em Cuidados de Saúde , Equipe de Assistência ao Paciente
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