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2.
Ophthalmic Plast Reconstr Surg ; 40(2): 217-222, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37989540

RESUMO

PURPOSE: To assess the accuracy and readability of responses generated by the artificial intelligence model, ChatGPT (version 4.0), to questions related to 10 essential domains of orbital and oculofacial disease. METHODS: A set of 100 questions related to the diagnosis, treatment, and interpretation of orbital and oculofacial diseases was posed to ChatGPT 4.0. Responses were evaluated by a panel of 7 experts based on appropriateness and accuracy, with performance scores measured on a 7-item Likert scale. Inter-rater reliability was determined via the intraclass correlation coefficient. RESULTS: The artificial intelligence model demonstrated accurate and consistent performance across all 10 domains of orbital and oculofacial disease, with an average appropriateness score of 5.3/6.0 ("mostly appropriate" to "completely appropriate"). Domains of cavernous sinus fistula, retrobulbar hemorrhage, and blepharospasm had the highest domain scores (average scores of 5.5 to 5.6), while the proptosis domain had the lowest (average score of 5.0/6.0). The intraclass correlation coefficient was 0.64 (95% CI: 0.52 to 0.74), reflecting moderate inter-rater reliability. The responses exhibited a high reading-level complexity, representing the comprehension levels of a college or graduate education. CONCLUSIONS: This study demonstrates the potential of ChatGPT 4.0 to provide accurate information in the field of ophthalmology, specifically orbital and oculofacial disease. However, challenges remain in ensuring accurate and comprehensive responses across all disease domains. Future improvements should focus on refining the model's correctness and eventually expanding the scope to visual data interpretation. Our results highlight the vast potential for artificial intelligence in educational and clinical ophthalmology contexts.


Assuntos
Blefarospasmo , Seio Cavernoso , Humanos , Inteligência Artificial , Compreensão , Reprodutibilidade dos Testes
3.
Ophthalmic Plast Reconstr Surg ; 39(5): 461-464, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36928323

RESUMO

PURPOSE: The Isabel differential diagnosis generator is one of the most widely known electronic diagnosis decision support tools. The authors prospectively evaluated the utility of Isabel for orbital disease differential diagnosis. METHODS: The terms "proptosis," "lid retraction," "orbit inflammation," "orbit tumour," "orbit tumor, infiltrative" and "orbital tumor, well-circumscribed" were separately input into Isabel and the results were tabulated. Then the clinical details (patient age, gender, signs, symptoms, and imaging findings) of 25 orbital cases from a textbook of orbital surgery were entered into Isabel. The top 10 differential diagnoses generated by Isabel were compared with the correct diagnosis. RESULTS: Isabel identified hyperthyroidism and Graves ophthalmopathy as the leading causes of lid retraction, but many common causes of proptosis and orbital tumors were not correctly elucidated. Of the textbook cases, Isabel correctly identified 4/25 (16%) of orbital cases as one of its top 10 differential diagnoses, and the median rank of the correct diagnosis was 6/10. Thirty-two percent of the output diagnoses were unlikely to cause orbital disease. CONCLUSION: Isabel is currently of limited value in the mainstream orbital differential diagnosis. The incorporation of anatomic localizations and imaging findings may help increase the accuracy of orbital diagnosis.


Assuntos
Exoftalmia , Doenças Palpebrais , Oftalmopatia de Graves , Doenças Orbitárias , Neoplasias Orbitárias , Humanos , Diagnóstico Diferencial , Oftalmopatia de Graves/diagnóstico , Órbita/diagnóstico por imagem , Órbita/cirurgia , Exoftalmia/etiologia , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/complicações , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/complicações , Doenças Palpebrais/diagnóstico
4.
Ophthalmic Plast Reconstr Surg ; 38(4): 355-358, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34873126

RESUMO

PURPOSE: To evaluate the possibility of implanting a drug-eluting coronary stent into the canaliculus of a human cadaver. METHODS: The punctum and canaliculus of an embalmed human cadaver were identified and dilated using a punctum dilator and Bowman probes. At this stage, the integrity of the lacrimal drainage system was assessed by dacryoendoscopy. A drug-eluting coronary stent, which was collapsed around a balloon at the tip of a catheter, was inserted into the canaliculus. The balloon was inflated to expand and lock the spring-like stent into position. The balloon catheter was then deflated and removed from the canaliculus. Dacryoendoscopy was used once again to assess the position of each stent after implantation. RESULTS: The four canaliculi of one human cadaver were successfully identified, dilated, and intubated using drug-eluting coronary stents. Dacryoendoscopy confirmed that each stent achieved a satisfactory position within the canaliculi. The seamless integration of the stent with the surrounding tissues resulted in a significant dilation of the canaliculi. The procedure was deemed short and simple, with the time required to implant a stent into the canaliculus and asses its position being less than a minute. CONCLUSIONS: Canalicular obstructions can often be a source of therapeutic challenges. Our pilot study shows that a drug-eluting coronary stent can be implanted with precision into the canaliculus of a human cadaver. We propose that at least some canalicular obstructions could be treated using a novel rigid mesh tube similar to drug-eluting coronary stents.


Assuntos
Obstrução dos Ductos Lacrimais , Cadáver , Humanos , Obstrução dos Ductos Lacrimais/terapia , Projetos Piloto , Stents , Resultado do Tratamento
5.
Orbit ; 40(4): 281-286, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32552229

RESUMO

Purpose: To review the current literature on Coronavirus Disease 2019 (COVID-19) virology and transmission; to present a decision tree for risk stratifying oculofacial plastic and orbital surgeries; and to generate personal protective equipment (PPE) recommendations by risk category.Methods: A comprehensive literature review on COVID-19 was conducted. A two-stage modified Delphi technique involving 18 oculofacial plastic and orbital surgeons across Canada was used to determine consensus risk-stratification criteria and PPE recommendations for surgeries performed in the North American context.Results: COVID-19 is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We summarize COVID-19 virology and transmission, as well as practice considerations for oculofacial plastic and orbital surgeons. Although SARS-CoV-2 is known to be transmitted predominantly by droplet mechanisms, some studies suggest that transmission is possible through aerosols. Among common procedures performed by oculofacial and plastic surgeons, some are likely to be considered aerosol-generating. Risk of transmission increases when manipulating structures known to harbor high viral loads. We present an algorithm for risk-stratification based on the nature of surgery and the anatomical sites involved and offer recommendations for PPE.Conclusions: Although universal droplet precautions are now recommended in most healthcare settings, some clinical situations require more stringent infection control measures. By highlighting high-risk scenarios specific to oculofacial plastic and orbital surgery, as well as PPE recommendations, we hope to enhance the safety of continued care during the COVID-19 pandemic.


Assuntos
COVID-19/transmissão , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Procedimentos Cirúrgicos Oftalmológicos , Doenças Orbitárias/cirurgia , Equipamento de Proteção Individual/normas , SARS-CoV-2/patogenicidade , Cirurgia Plástica , Árvores de Decisões , Técnica Delphi , Humanos , Controle de Infecções/normas , Pneumonia Viral/prevenção & controle , Medição de Risco
6.
J Craniofac Surg ; 32(3): e296-e298, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-33235177

RESUMO

ABSTRACT: Intravascular papillary endothelial hyperplasia (IPEH) is a benign vascular lesion that is formally diagnosed on histopathology. IPEH seldom presents in periocular tissues and is even less commonly seen deep within the orbit. As with cavernous hemangioma, this lesion tends to distort surrounding structures and can cause a significant mass effect in the orbit. The authors present an unusual case of orbital IPEH that resulted in severe proptosis and progressive vision loss from optic nerve compression. In toto surgical excision of the lesion resulted in significant recovery of vision loss and resolution of symptoms associated with proptosis. To the best of our knowledge, this case is the first to illustrate the potential for visual recovery after surgery in a patient with compressive optic neuropathy from orbital IPEH.


Assuntos
Endotélio Vascular , Neoplasias Vasculares , Diagnóstico Diferencial , Endotélio Vascular/patologia , Humanos , Hiperplasia/patologia , Órbita , Neoplasias Vasculares/complicações , Neoplasias Vasculares/patologia , Neoplasias Vasculares/cirurgia
7.
Can J Ophthalmol ; 55(3): 245-252, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31901307

RESUMO

OBJECTIVE: The management of advanced basal cell carcinoma (BCC) in the periocular region remains a clinical challenge. Vismodegib (ErivedgeTM) has been approved in 2013 by Health Canada for adult patients with "histologically confirmed metastatic BCC or locally advanced BCC inappropriate for surgery or radiation." An expert consensus was sought to create a standardised approach in the use of this novel treatment. METHODS: Fourteen practicing oculoplastic surgeons across Canada were involved in formulating and reviewing guidelines until consensus was reached. A consultancy meeting was followed by further ratification of guidelines over email. Two voting surveys were performed of the group to objectively assess agreement over each statement within the guidelines. Ratification continued until at least two-thirds of the group agreed on every guideline statement. RESULTS: The guidelines summarize 21 statements in a major and minor criteria format. A multidisciplinary team review is suggested for each patient with the involvement of recommended specialists. The internal survey revealed 100% agreement over 9 statements, 91.7% agreement over 8 statements, 83.3% agreement over 4 statements, and 2 statements had 66.7% and 58.7% agreement each. All statements with less than 91.7% agreement were surveyed again, and they were kept, modified, or removed on the basis of a consensus of over 66.7%. CONCLUSIONS: These guidelines serve to act as a framework for physicians considering vismodegib for the medical management of patients with advanced or metastatic periocular BCC. Future applications, including neoadjuvant uses of the drug, may become apparent through further research.


Assuntos
Antineoplásicos , Carcinoma Basocelular , Neoplasias Cutâneas , Adulto , Anilidas , Antineoplásicos/uso terapêutico , Canadá , Humanos , Piridinas , Resultado do Tratamento
8.
Ocul Oncol Pathol ; 5(4): 252-257, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31367586

RESUMO

PURPOSE: To report 2 cases of regression of sebaceous carcinoma of the eyelid after a small incisional biopsy. METHODS: Clinical, imaging, and histopathological findings are presented, with a literature review on regressing ocular tumors. RESULTS: Our first patient was a 79-year-old man who presented with a 10-month history of progressive left upper eyelid ptosis caused by an eyelid tumor with orbital involvement and confirmed on magnetic resonance imaging. Our second patient was a 70-year-old woman who presented with ptosis with a left upper eyelid mass. Both patients underwent a small incisional biopsy of their lesion. The histopathological diagnoses in both cases were consistent with sebaceous carcinoma. Both patients refused exenteration. Follow-up clinical examination and imaging disclosed total regression of the ptosis and of the neoplasm with no sign of recurrence in both patients over a 4-year period for Case 1 and a 7-year period for Case 2. CONCLUSION: Regression following incisional biopsy of basal cell, squamous cell, and Merkel cell carcinoma, including of the eyelid, is well documented. To the best of our knowledge, our 2 cases of sebaceous carcinoma are the first to be reported with total involution clinically and on imaging of the tumor following partial incisional biopsy.

9.
Clin Ophthalmol ; 13: 421-430, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30863010

RESUMO

PURPOSE: To develop and validate neural network (NN) vs logistic regression (LR) diagnostic prediction models in patients with suspected giant cell arteritis (GCA). Design: Multicenter retrospective chart review. METHODS: An audit of consecutive patients undergoing temporal artery biopsy (TABx) for suspected GCA was conducted at 14 international medical centers. The outcome variable was biopsy-proven GCA. The predictor variables were age, gender, headache, clinical temporal artery abnormality, jaw claudication, vision loss, diplopia, erythrocyte sedimentation rate, C-reactive protein, and platelet level. The data were divided into three groups to train, validate, and test the models. The NN model with the lowest false-negative rate was chosen. Internal and external validations were performed. RESULTS: Of 1,833 patients who underwent TABx, there was complete information on 1,201 patients, 300 (25%) of whom had a positive TABx. On multivariable LR age, platelets, jaw claudication, vision loss, log C-reactive protein, log erythrocyte sedimentation rate, headache, and clinical temporal artery abnormality were statistically significant predictors of a positive TABx (P≤0.05). The area under the receiver operating characteristic curve/Hosmer-Lemeshow P for LR was 0.867 (95% CI, 0.794, 0.917)/0.119 vs NN 0.860 (95% CI, 0.786, 0.911)/0.805, with no statistically significant difference of the area under the curves (P=0.316). The misclassification rate/false-negative rate of LR was 20.6%/47.5% vs 18.1%/30.5% for NN. Missing data analysis did not change the results. CONCLUSION: Statistical models can aid in the triage of patients with suspected GCA. Misclassification remains a concern, but cutoff values for 95% and 99% sensitivities are provided (https://goo.gl/THCnuU).

10.
Clin Ophthalmol ; 13: 153-160, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30666086

RESUMO

This study discusses local anesthetic agents, administration techniques, ancillary considerations, and safety precautions for oculoplastic surgery including eyelid, lacrimal, orbital, and temporal artery biopsy procedures. Methods for reducing patient apprehension and discomfort including systemic premedication, topical pre-anesthetic, visual, auditory and tactile distraction techniques, regional blocks, small gauge needles, warmed lidocaine, and buffered lidocaine are discussed.

11.
Orbit ; 38(3): 180-183, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29993308

RESUMO

Computer-assisted surgery (CAS) plays a prominent role in certain surgical disciplines. We investigated the current perceptions and use of this technology for orbital surgery. An online survey was emailed to members of the American Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Society of Oculoplastic Surgery, and British Oculoplastic Surgery Society. Respondents were asked to describe their practice type and seniority, their frequency of orbital surgery, experience, use, and accessibility of CAS, and their opinion on the technology. There were a total of 151 responses across the societies. 105 respondents (69.5%) had been in attending/consultant practice for over 10 years, with over half (54.7%) working in academic/teaching hospitals. The majority (66.7%) had superficial or no experience with CAS. In total, 84.8% of respondents rarely or never use CAS for orbital surgery (n = 128). Posterior orbital surgery (64.2%) and orbital decompression (49.0%) were the two most useful reasons to implement CAS. Longer operating time (58.3%) and cost (54.8%) were the two most selected weaknesses for CAS, whereas improved accuracy in attaining surgical end point(s) (80.8%) and patient safety (63.6%) were the principal advantages. Type of practice was significantly associated with CAS availability/accessibility (p < 0.05). Proportion of orbital surgery performed in practice was significantly associated with both CAS experience and use (p < 0.05). Our study confirms an expected variation in the perception and use of CAS for orbital surgery. Demonstrated patient benefit and integration of refined and cost-effective CAS systems into operating room environments may influence its future role.


Assuntos
Procedimentos Cirúrgicos Oftalmológicos/psicologia , Oftalmologistas/psicologia , Doenças Orbitárias/cirurgia , Cirurgia Assistida por Computador/psicologia , Pesquisas sobre Atenção à Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Salas Cirúrgicas , Padrões de Prática Médica
15.
Ophthalmic Plast Reconstr Surg ; 26(6): 473-5, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21099384

RESUMO

We present an unusual variant of necrobiotic xanthogranuloma with periorbital involvement. Our patient had an unusually complicated course due to initial misdiagnosis and patient refusal to undergo treatment. We present her clinical course and review the literature on this rare lesion.


Assuntos
Xantogranuloma Necrobiótico/complicações , Celulite Orbitária/complicações , Idoso de 80 Anos ou mais , Perfuração da Córnea/diagnóstico , Perfuração da Córnea/etiologia , Diagnóstico Diferencial , Enucleação Ocular , Evolução Fatal , Feminino , Humanos , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/radioterapia , Celulite Orbitária/diagnóstico , Celulite Orbitária/radioterapia
16.
Ophthalmic Plast Reconstr Surg ; 26(4): 281-5, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20551850

RESUMO

PURPOSE: To describe the lymphatic drainage patterns of the human eyelids. METHODS: Twenty-eight consenting patients who underwent unilateral eyelid surgery at McMaster University between March 2001 and July 2003 had their contralateral eyelids injected with 0.2 ml (0.250 mCi) of Tc 99 m sulphur colloid. The patients were divided into 1 of 5 injection sites of the eyelid, namely upper lateral, upper medial, medial canthus, lower medial, and lower lateral. Lymphoscintigraphy was performed between 2 and 6 hours later with a conventional planar gamma camera. Nodes in the head and neck were identified. In 15 patients, the right eye was injected, and in 13 patients, the left eye was injected. RESULTS: Three patients had no nodes that were identifiable. The remaining 25 patients had at least one node identified. In 11 patients, more than one node was identified. In 18 patients, the preauricular node was most intense and recognized first. Regardless of location on the eyelid, the sentinel node was most commonly the preauricular node. CONCLUSIONS: These results conflict with previously described classic drainage patterns of the eyelid lymphatics. In 72% (18/25) of cases, the first-order sentinel node was the preauricular node, regardless of location of the injection site on the eyelid. Many individuals did not fit the classic drainage patterns.


Assuntos
Pálpebras/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Compostos Radiofarmacêuticos , Coloide de Enxofre Marcado com Tecnécio Tc 99m , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Sistema Linfático , Pessoa de Meia-Idade , Cintilografia
17.
Orbit ; 27(6): 426-31, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19085297

RESUMO

PURPOSE: Solitary fibrous tumor (SFT) occurs rarely in the orbit. We present four such cases, representing one of the largest case series reported to date of this rare orbital tumor. METHOD: The four patients ranged from ages 20 to 50, all of whom presented with lid swelling or bulging in the involved eye. All four patients underwent CT scan to confirm the diagnosis of an orbital mass, which was then excised. RESULTS: The tumors of all four specimens contained spindle-shaped cells with bland nuclei and rare mitotic figures. They all stained positively with CD34 and vimentin. Resection margins were positive in two of the four cases. One of these cases demonstrated residual tumor on follow-up CT scan, which remained unchanged at one-year follow-up. No evidence of residual tumor was found in the other three cases, despite one having malignant pathology. CONCLUSION: SFT is a rare and generally benign tumor of the orbit. Immunohistochemical testing with CD34 is necessary to confirm the diagnosis. Although en bloc tumor resection is the definitive treatment, residual tumor may remain stable for some time. However, this must be followed closely if complete resection is not carried out.


Assuntos
Fibroma/patologia , Neoplasias Orbitárias/patologia , Adulto , Antígenos CD34/análise , Biomarcadores Tumorais/análise , Feminino , Fibroma/química , Fibroma/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Neoplasias Orbitárias/química , Neoplasias Orbitárias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Vimentina/análise
18.
Ophthalmic Plast Reconstr Surg ; 21(1): 76-9, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15677960

RESUMO

A 5-week premature infant boy with tumorous malformations underwent biopsy of two truncal masses and exenteration of the left orbit. Specimens were examined histologically. Histologic reports, slides, and clinical photographs were reviewed. A diagnosis of malignant rhabdoid tumor was made. Malignant rhabdoid tumors can present as local or disseminated neoplastic disease involving the orbit and should be considered in the differential diagnosis of rapidly progressing orbital lesions presenting in early infancy. We review the current classification of rhabdoid tumors and the previous literature on orbital rhabdoid tumors.


Assuntos
Doenças do Prematuro , Neoplasias Renais/congênito , Neoplasias Orbitárias/congênito , Tumor Rabdoide/congênito , Neoplasias Abdominais/congênito , Neoplasias Abdominais/diagnóstico , Neoplasias Abdominais/tratamento farmacológico , Antígenos de Neoplasias/análise , Biópsia , Diagnóstico Diferencial , Evolução Fatal , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Humanos , Imuno-Histoquímica , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/tratamento farmacológico , Doenças do Prematuro/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/tratamento farmacológico , Masculino , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/tratamento farmacológico , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/tratamento farmacológico , Tomografia Computadorizada por Raios X
19.
Ophthalmic Plast Reconstr Surg ; 20(4): 291-5, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15266143

RESUMO

PURPOSE: To describe one center's experience with sentinel lymph node (SLN) biopsy in patients with eyelid and conjunctival malignancies performed with a smaller volume of technetium than was initially used and a small incision directly overlying the sentinel node(s). METHODS: A noncomparative interventional case series of 13 patients with clinically negative regional lymph nodes who underwent SLN biopsy for eyelid or conjunctival malignancies at The University of Texas M. D. Anderson Cancer Center between May 2002 and July 2003. Preoperative lymphoscintigraphy was performed with an injection of 0.3 mCi of technetium Tc-99m sulfur colloid in a volume of 0.2 mL. Images were taken as soon as the first SLN was detected through the gamma camera. Intraoperative mapping was performed with the same volume and concentration of technetium Tc-99m sulfur colloid along with an injection of isosulfan blue dye. RESULTS: Five patients had conjunctival melanoma, 6 had sebaceous cell carcinoma of the eyelid, and 2 had eyelid melanoma. SLN(s) were identified in all patients. In 12 patients, more than 1 SLN was identified. During surgery, no SLNs were blue. One patient with conjunctival melanoma had an SLN that was positive on histologic examination. There were no ocular or extraocular complications from the procedure except for mild temporary weakness of the marginal mandibular branch of the facial nerve in 2 patients that resolved completely within 4 to 6 weeks and without any further intervention. None of the patients had permanent blue tattooing of the conjunctival surface or eyelid skin. CONCLUSIONS: Our experience suggests that lymphoscintigraphy and SLN biopsy with a small volume of technetium Tc-99m sulfur colloid and small incisions, even without the use of the blue dye, can identify SLNs in patients with conjunctival and eyelid malignancies, and can be performed safely.


Assuntos
Adenocarcinoma Sebáceo/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias Palpebrais/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Melanoma/diagnóstico por imagem , Neoplasias das Glândulas Sebáceas/diagnóstico por imagem , Biópsia de Linfonodo Sentinela , Adenocarcinoma Sebáceo/secundário , Adulto , Idoso , Idoso de 80 Anos ou mais , Corantes , Neoplasias da Túnica Conjuntiva/patologia , Neoplasias Palpebrais/patologia , Feminino , Humanos , Linfonodos/patologia , Metástase Linfática , Masculino , Melanoma/secundário , Pessoa de Meia-Idade , Radiografia , Cintilografia , Rênio , Corantes de Rosanilina , Neoplasias das Glândulas Sebáceas/patologia , Coloide de Enxofre Marcado com Tecnécio Tc 99m
20.
Am J Med Genet ; 113(4): 320-5, 2002 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-12457402

RESUMO

Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.


Assuntos
Anormalidades do Olho/patologia , Síndrome de Goldenhar/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/patologia , Blefaroptose , Criança , Doenças em Gêmeos , Desenvolvimento Embrionário e Fetal , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/etiologia , Feminino , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos
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