RESUMO
A newborn girl was referred to the otolaryngology service after prenatal imaging showed a right mandibular mass. Physical examination revealed a 1-2 cm mass along the right mandible with the appearance of a vestigial oral cavity. Tissue resembling the vermillion and primitive tongue appeared innervated and moved in conjunction with oral movements. MRI and CT of the mandible after birth confirmed a partially ossified soft tissue mass of the right mandibular body, containing unerupted teeth. She was taken to the operating room at 6 months of age for mass excision and reconstruction. Postoperatively, she healed well and was feeding without difficulty. Craniofacial duplication, including duplication of stomatodeal structures or diprosopus, is a rare condition with a variety of phenotypes. In the case of suspected craniofacial duplication, associated syndromes should be ruled out and appropriate imaging employed to determine the extent of involvement of adjacent structures, which will ultimately guide surgical planning.
Assuntos
Anormalidades Craniofaciais/cirurgia , Mandíbula/cirurgia , Anormalidades da Boca/cirurgia , Língua/cirurgia , Angiografia por Tomografia Computadorizada , Anormalidades Craniofaciais/diagnóstico , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Procedimentos de Cirurgia Plástica , Língua/anormalidades , Língua/diagnóstico por imagemRESUMO
Syngnathia is a rare facial anomaly associated with neonatal problems, including a compromised airway, and the inability to take in solids and/or liquids. Syngnathia is included within the spectrum of oromandibular limb hypogenesis syndrome, an extremely rare condition characterized by varying degrees of congenital malformation involving the tongue, mandible, and limbs. In this report, we describe the case of a 41-day-old Caucasian female infant who was unable to open her mouth beginning at birth. The authors performed osteotomies to separate fused bone, and placed a bite block at the osteotomy sites to prevent bone fusion recurrence. At 2 years of follow-up patient remained with 14âmm of mouth opening.
Assuntos
Anormalidades Maxilomandibulares/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Anormalidades Múltiplas , Feminino , Humanos , Lactente , Anormalidades Maxilomandibulares/cirurgia , Mandíbula/anormalidades , Anormalidades da Boca/cirurgia , Osteotomia , Língua/anormalidadesRESUMO
Congenital fusion of the jaws (syngnathia) is a rare and severe disorder. The authors report a case of bony fusion of the left mandible with the maxilla and zygomatic complex in a 5-day-old male who was not able to feed and open his mouth normally. Early surgery was performed to release the bony fusion on the tenth day of life. The authors present a new technique based on the intraoperative use of 3-dimensional surgical guides.
Assuntos
Anormalidades Maxilomandibulares/cirurgia , Mandíbula/cirurgia , Maxila/cirurgia , Anormalidades da Boca/cirurgia , Zigoma/cirurgia , Humanos , Recém-Nascido , Anormalidades Maxilomandibulares/diagnóstico por imagem , Masculino , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Zigoma/diagnóstico por imagemRESUMO
The oro-ocular cleft number 5 according to the Tessier classification is one of the rarest facial clefts and few cases have been reported in the literature. Although the detailed structure of rare craniofacial clefts is well established, the cause of these pathological conditions is not. There are no existing guidelines for the management of this particular kind of cleft. We describe the case of a 19-month-old girl with a complete bilateral facial cleft. We describe the surgical steps taken to achieve the primary correction of the soft tissue deformation. Embryologic development and radiological approach are discussed, as are also the psychological and social aspects of severe facial deformities.
Assuntos
Fissura Palatina/cirurgia , Anormalidades do Olho/cirurgia , Face/anormalidades , Ossos Faciais/anormalidades , Ossos Faciais/cirurgia , Anormalidades da Boca/cirurgia , Fissura Palatina/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Ossos Faciais/diagnóstico por imagem , Feminino , Humanos , Lactente , Anormalidades da Boca/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE To evaluate the usefulness of injection of indocyanine green (ICG) solution with near-infrared (NIR) fluorescence imaging for transcutaneous detection of sentinel lymph nodes (SLNs) and their associated lymphatic vessels in the oral mucosa of healthy dogs. ANIMALS 6 adult purpose-bred research hounds. PROCEDURES Each dog was sedated, and 1 mL of ICG solution was injected into the gingival mucosa dorsal to the right maxillary canine tooth. Subsequently, NIR fluorescence imaging was used to transcutaneously detect the lymphatic vessels and SLNs. The distance between the injection site and each SLN was measured. Time to first evidence of node fluorescence was recorded, and velocity of ICG movement was calculated. A slide preparation of a fine-needle aspiration sample of the fluorescing structure underwent cytologic examination (to confirm presence of lymphatic tissue) and NIR fluorescence imaging (to confirm presence of ICG). RESULTS The ipsilateral mandibular lymphocentrum was the SLN in all dogs. The time to visually detectable fluorescence ranged from 4 to 15 minutes (mean ± SD, 8.8 ± 3.76 minutes). The mean velocity was 1.94 ± 0.93 cm/min. Fluorescence was not observed in the contralateral lymph nodes. Each fluorescing structure was confirmed to be lymphatic tissue, and NIR fluorescence imaging revealed that ICG was present in the sampled SLN. CONCLUSIONS AND CLINICAL RELEVANCE Results indicated that injection of ICG solution with NIR fluorescence imaging can be used to transcutaneously identify SLNs along with associated lymphatic vessels in the oral mucosa of healthy dogs. Time from injection to identification of fluorescence was rapid with prolonged retention of material within the SLN, indicating that this procedure could be performed during surgery.
Assuntos
Mucosa Bucal/patologia , Boca/diagnóstico por imagem , Linfonodo Sentinela/diagnóstico por imagem , Espectroscopia de Luz Próxima ao Infravermelho , Animais , Cães , Estudos de Viabilidade , Feminino , Fluorescência , Verde de Indocianina , Linfonodos , Metástase Linfática , Masculino , Anormalidades da Boca/diagnóstico por imagemAssuntos
Mandíbula/anormalidades , Maxila/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/diagnóstico , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7th and the 14th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery. CONCLUSIONS: We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.
Assuntos
Anoftalmia/parasitologia , Toxoplasmose Congênita/complicações , Antiprotozoários/uso terapêutico , Infecções por Citomegalovirus/diagnóstico , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Lactente , Recém-Nascido , Masculino , Anormalidades da Boca/diagnóstico por imagem , Anormalidades da Boca/parasitologia , Gravidez , Pirimetamina/uso terapêutico , Toxoplasma/patogenicidade , Toxoplasmose Congênita/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: The purpose of this study was to evaluate the safety and efficacy of direct intralesional ethanol sclerotherapy for venous malformations (VMs) with oropharyngeal involvement after a temporary tracheotomy. METHODS: A retrospective assessment was carried out to evaluate the efficacy of direct intralesional ethanol sclerotherapy on 21 consecutive patients presenting with extensive VMs involving the oropharynx in the head and neck and who had undergone tracheotomy. RESULTS: Of the 21 patients, 4 were treated once and 17 were treated from 2 to 5 times. The duration of follow-up was, on average, 9.1 months. Of the 21 patients, 7 (33.3%) had complete palliation, whereas the rest (66.7%) achieved partial palliation. Minor complications occurred in 12 of the 21 patients. CONCLUSION: Direct intralesional ethanol sclerotherapy after a temporary tracheotomy is a safe and effective treatment for extensive VMs involving oropharyngeal areas of the head and neck. © 2016 Wiley Periodicals, Inc. Head Neck 39: 288-296, 2017.
Assuntos
Etanol/administração & dosagem , Escleroterapia/métodos , Traqueotomia/métodos , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Adolescente , Adulto , Criança , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Anormalidades da Boca/diagnóstico por imagem , Anormalidades da Boca/terapia , Orofaringe/anormalidades , Flebografia/métodos , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Língua/anormalidades , Resultado do Tratamento , Veias/anormalidades , Adulto JovemRESUMO
Syngnathia is a rare congenital disorder of jaw fusion with a paucity of literature from developed countries. We present a case of an infant noted to have multiple anomalies at birth including syngnathia, microcephaly with a variant of brain abnormality between holoprosencephaly and syntelencephaly, optic nerve hypoplasia, ear canal anomalies, hemi-vertebrae, and suspected hypomelanosis of Ito. To our knowledge, this patient with syngnathia and multiple anomalies is the first to be reported, but whether they are a coincidence, a pathogenetic association, or a new syndrome remains unknown. This case is discussed with a brief review of the literature.
Assuntos
Anormalidades Múltiplas , Encéfalo/anormalidades , Anormalidades Maxilomandibulares/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Transtornos da Pigmentação/congênito , Encéfalo/diagnóstico por imagem , Meato Acústico Externo/anormalidades , Meato Acústico Externo/diagnóstico por imagem , Evolução Fatal , Feminino , Humanos , Microcefalia/diagnóstico por imagem , Nervo Óptico/anormalidades , Nervo Óptico/diagnóstico por imagem , Coluna Vertebral/anormalidades , Coluna Vertebral/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed Tomography, few days after her birth. Our case of partial craniofacial duplication can be considered as Type II of Gorlin classification or as an intermediate form between Type I and Type II of Sun classification. Our experience demonstrates that CT scan, using appropriate reconstruction algorithms, permits a detailed evaluation of the different structures in an anatomical region. Multi-row CT scan is also the more accurate diagnostic procedure for the pre-surgical evaluation of craniofacial malformations.
Assuntos
Mandíbula/anormalidades , Anormalidades da Boca/diagnóstico por imagem , Tomografia Computadorizada Multidetectores/métodos , Língua/anormalidades , Anormalidades Craniofaciais/classificação , Feminino , Humanos , Imageamento Tridimensional/métodos , Recém-Nascido , Tomografia Computadorizada por Raios X/métodosRESUMO
Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation. Loss of function mutations have been recently reported in the CHSY1 gene to cause the TPBS. Here, we report a novel missense mutation (c.1897 G > A) in the CHSY1 gene in two TPBS patients from a consanguineous Pakistani family. The mutation predicted substitution of a highly conserved aspartate amino acid residue to asparagine at position 633 in the protein (D633N). Polyphen analysis supported the pathogenicity of D36N mutation. Our finding extends the body of recent evidence that supports the role of CHSY1 as a potential mediator of BMP signaling.
Assuntos
Braquidactilia/genética , Surdez/genética , Deficiência Intelectual/genética , Anormalidades da Boca/genética , Mutação de Sentido Incorreto , N-Acetilgalactosaminiltransferases/genética , Anormalidades Dentárias/genética , Sequência de Aminoácidos , Sequência de Bases , Braquidactilia/diagnóstico por imagem , Criança , Consanguinidade , Sequência Conservada , Análise Mutacional de DNA , Surdez/diagnóstico por imagem , Feminino , Estudos de Associação Genética , Glucuronosiltransferase , Humanos , Deficiência Intelectual/diagnóstico por imagem , Masculino , Dados de Sequência Molecular , Anormalidades da Boca/diagnóstico por imagem , Enzimas Multifuncionais , Paquistão , Linhagem , Radiografia , Anormalidades Dentárias/diagnóstico por imagem , Adulto JovemRESUMO
AIM: This retrospective study aims at demonstrating the importance of a correct and detailed early diagnosis of craniomaxillofacial malformations affecting the fetus, which would (1) allow improvement in ultrasonography (US) diagnosis, (2) help in planning the therapeutic-surgical procedure, and (3) improve handling of the pathology by the families. MATERIALS AND METHODS: Between 2008 and 2011, a sample of 28 fetuses was selected, all with an ultrasound diagnosis of cleft lip (cheiloschisis-CL) and cleft lip and palate (palatoschisis-CLP) and craniofacial malformation, whose mothers had all underwent ultrasound diagnostic examinations and nuclear magnetic resonance (MRI). All cases were submitted to US examination between the 12th and 19th week of pregnancy, US-3D examination performed by a specialist radiologist between the 19th and 22nd week, and MRI examination between the 23rd and 33rd week of pregnancy. RESULTS: The MRI confirmed the ultrasound diagnosis of 16/28 cases and added information in 11/28 cases, and in 1 (1/28) case, the MRI denied previous CL-CLP ultrasound diagnosis. Moreover, in this study MRI improved the analysis of the entire morphology of the fetuses in cases when syndromic involvement with the involvement of other organs needs to be determined. CONCLUSIONS: The MRI method in fetal patients allows to obtain more details regarding the CL-CLP studied, allowing the medical-surgical team to plan, before the birth, the type of postnatal assessment and surgery to be performed, thus minimizing the impact on neonatal health and improving quality of life of both the patient and his family.
Assuntos
Anormalidades Craniofaciais/diagnóstico , Doenças Fetais/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Cromossomos Humanos Par 13 , Fenda Labial/diagnóstico , Fenda Labial/diagnóstico por imagem , Fissura Palatina/diagnóstico , Fissura Palatina/diagnóstico por imagem , Anormalidades Craniofaciais/diagnóstico por imagem , Síndrome de Down/diagnóstico , Síndrome de Down/diagnóstico por imagem , Feminino , Doenças Fetais/diagnóstico por imagem , Idade Gestacional , Holoprosencefalia/diagnóstico , Holoprosencefalia/diagnóstico por imagem , Humanos , Anormalidades da Boca/diagnóstico , Anormalidades da Boca/diagnóstico por imagem , Planejamento de Assistência ao Paciente , Gravidez , Qualidade de Vida , Estudos Retrospectivos , Trissomia/diagnóstico , Ultrassonografia Pré-Natal/métodosRESUMO
Determining a child's chronological age and stage of maturation is particularly important in fields such as paediatrics, orthopaedics, and orthodontics, as well as in forensic and anthropological studies. Some systemic conditions can cause abnormal physiological maturation, and skeletal maturation is usually more delayed than dental maturation. The aim of this study was to determine dental age in a group of patients with the most prevalent congenital or perinatally occurring physical and mental disabilities. The study group comprised 155 white Spanish children aged 3-17 years (35 with cerebral palsy, 83 with mental retardation and no associated syndromes or systemic conditions, and 37 with Down syndrome). The dental maturation indices described by Nolla and Demirjian were used to generate regression lines for the dental age of individuals in a control group (688 white Spanish children aged 3-17 years) and the formulae were then used to determine the dental age of patients in the study group. No significant differences were found between dental and chronological age in boys with cerebral palsy, mental retardation, or Down syndrome. In contrast, dental age (calculated from the linear regression model that included values for the Demirjian index) was significantly delayed compared with chronological age in girls with cerebral palsy or Down syndrome.
Assuntos
Determinação da Idade pelos Dentes/métodos , Paralisia Cerebral/fisiopatologia , Síndrome de Down/fisiopatologia , Deficiência Intelectual/fisiopatologia , Anormalidades da Boca/fisiopatologia , Adolescente , Distribuição por Idade , Envelhecimento , Paralisia Cerebral/epidemiologia , Criança , Pré-Escolar , Síndrome de Down/epidemiologia , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Anormalidades da Boca/diagnóstico por imagem , Anormalidades da Boca/epidemiologia , Desenvolvimento Musculoesquelético/fisiologia , Prevalência , Análise de Regressão , Dente/diagnóstico por imagem , Dente/crescimento & desenvolvimento , Dente/fisiologiaRESUMO
Epidermoid cysts are benign conditions that are thought to derive from abnormally situated ectodermal inclusions in the oral cavity. They are generally found in hands, fingers, feet, ovaries and testicles but in oral cavity they represent a very rare event. This is the first case of an intraosseous epidermoid cyst situated in the hard palate. Healing was uneventful and there was no sign of recurrence in 2-years follow-up.
Assuntos
Cisto Epidérmico/cirurgia , Anormalidades da Boca/cirurgia , Palato Duro/cirurgia , Adulto , Cisto Epidérmico/congênito , Cisto Epidérmico/diagnóstico por imagem , Feminino , Humanos , Achados Incidentais , Anormalidades da Boca/diagnóstico por imagem , Palato Duro/anormalidades , Palato Duro/diagnóstico por imagem , RadiografiaRESUMO
OBJECTIVE: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). DESIGN: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated. RESULTS: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined. CONCLUSIONS: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.
Assuntos
Freio Labial/anormalidades , Anormalidades da Boca/patologia , Síndromes Orofaciodigitais/patologia , Anormalidades Dentárias/patologia , Adolescente , Adulto , Criança , Fenda Labial/etiologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/etiologia , Feminino , Humanos , Má Oclusão/etiologia , Anormalidades da Boca/diagnóstico por imagem , Anormalidades da Boca/etiologia , Síndromes Orofaciodigitais/diagnóstico por imagem , Radiografia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adulto JovemAssuntos
Doenças do Sistema Nervoso Central/congênito , Doenças do Sistema Nervoso Central/diagnóstico por imagem , Transtornos de Deglutição/congênito , Transtornos de Deglutição/diagnóstico por imagem , Anormalidades da Boca/diagnóstico por imagem , Comportamento de Sucção/fisiologia , Ultrassonografia Pré-Natal , Feminino , Humanos , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , SíndromeRESUMO
We are present a case of duplication of hemi mandible and oral cavity in an adult patient. This is a very rare condition and each and every case warrants publication. This patient is unique in that she would not have presented for surgery if she was married. She presented at 30 years of age. The patient underwent radiological investigations using CAT scan, orthopantogram and routine X-ray films. She was operated on with an elliptical incision around the swelling, excising the whole of the duplicated mandible along with other associated structures such as a salivary gland and the branchial cyst present along with it. Postoperatively the patient had mild marginal mandibular weakness which recovered with time.