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1.
Ann Plast Surg ; 90(6S Suppl 5): S578-S582, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37399482

RESUMO

PURPOSE: Patients undergoing resection of the external genitalia are often faced with significant deformity and decreased quality of life. Plastic surgeons are tasked with the challenge of reconstructing these defects to minimize morbidity and increase patients' quality of life. The authors have set out to investigate the efficacy of local fasciocutaneous and pedicled perforator flaps in external genital reconstruction. METHODS: A retrospective review was conducted of all patients undergoing reconstruction of acquired defects of the external genitalia from 2017 to 2021. In total, 24 patients met inclusion criteria for the study. Patients were allocated into 2 cohorts: patients with defects reconstructed using local fasciocutaneous flaps (FF) versus patients with defects reconstructed using pedicled islandized perforator flaps (PF). Comorbid conditions, ablative procedures, operative times, flap size, and complications were compared across all groups. Fisher exact test was used to analyze differences in comorbidities, while independent t tests were used to analyze age, body mass index, operative time, and flap size. Significance was set at P < 0.05. RESULTS: Of the 24 patients included in the study, 6 underwent reconstruction with islandized PFs (either profunda artery perforator or anterolateral thigh), and 18 underwent reconstruction with FFs. The most common indication for reconstruction was vulvectomy for vulvar cancer, followed by radical debridement for infection, and lastly penectomy for penile cancer. The PF cohort had a significantly higher percentage of previously irradiated patients (50% vs 11.1%, P = 0.019). Although mean flap size was larger in the PF cohort, this difference did not reach statistical significance (176 vs 143.4 cm2, P = 0.5). Perforator flaps had significantly longer operative times when compared with FFs (237.33 vs 128.99 minutes, P = 0.003). Average length of stay was 6.88 days in FF and 5.33 days in PF (P = 0.624). Complication profile including flap necrosis, wound healing delays, and infection were similar between groups despite a significantly higher rate of prior radiation in the PF cohort. CONCLUSIONS: Our data suggest that PFs such as profunda artery perforator and anterolateral thigh flaps are associated with longer operative times but may offer a suitable option for reconstruction of acquired defects of the external genital compared with local FFs, especially in the setting of prior radiation.


Assuntos
Retalho Perfurante , Procedimentos de Cirurgia Plástica , Feminino , Humanos , Qualidade de Vida , Resultado do Tratamento , Retalho Perfurante/irrigação sanguínea , Vulva/cirurgia , Estudos Retrospectivos , Coxa da Perna/cirurgia
2.
Ann Plast Surg ; 88(4): 366-371, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-35312646

RESUMO

BACKGROUND: Medical chaperones often play an important role during physical examinations, providing patient comfort and serving as medicolegal witness. The purpose of this study was to evaluate and compare practices regarding chaperone use by plastic surgery attendings and trainees. METHODS: A voluntary survey was distributed to members of the American Council of Academic Plastic Surgeons. The survey included a standardized set of questions regarding physician demographics, nature of practice training, and current practices pertaining to chaperone use. Data were analyzed in a descriptive fashion. Ordinal logistic regression models were used to identify predictors of chaperone use. RESULTS: We received 167 responses, of which 107 (64.1%) were attendings and 60 (35.9%) were trainees. In total, 78.3% of the respondents were male and 21.7% were female. Routine use of chaperones was reported at 58.6%. Compared with plastic surgery trainees, attending surgeons were 12.8 times more likely to use a chaperone during sensitive examinations (P < 0.001). In addition, male respondents were 6.43 times more likely than their female counterparts to involve a chaperone during sensitive examinations (P < 0.001). Forty-eight percent of the trainees acknowledged receiving education regarding chaperone use, and this cohort was 7 times more likely to use a chaperone when compared with trainees who had not received chaperone instruction (P < 0.001). CONCLUSIONS: This study highlights the wide variability of chaperone use among plastic surgery attendings and trainees. Integration and standardization of chaperone education within plastic surgery training may be an effective technique to promote this practice and lead to improved patient-provider clinical experiences.


Assuntos
Internato e Residência , Acompanhantes Formais em Exames Físicos , Procedimentos de Cirurgia Plástica , Cirurgiões , Cirurgia Plástica , Feminino , Humanos , Masculino , Exame Físico/métodos , Cirurgia Plástica/educação , Inquéritos e Questionários , Estados Unidos
3.
Ann Plast Surg ; 86(1): 11-18, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32568754

RESUMO

BACKGROUND: The United States (US) is in the mid of an opioid epidemic propagated, in part, by prescription opioids. With excess overprescribing documented in a variety of surgical procedures, several societies have recommended opioid-prescribing guidelines. Considering the scope and postoperative pain associated with aesthetic plastic surgery procedures, earnest evaluation into opioid-prescribing practices for breast augmentation was conducted. METHODS: Members of the American Society for Aesthetic Plastic Surgery were electronically surveyed on their opioid-prescribing patterns. The survey was distributed to 1709 plastic surgeons. Descriptive statistics were collated into percentages, deviations, and morphine milligram equivalents (MMEs), when appropriate. RESULTS: Two hundred twenty-nine American Society for Aesthetic Plastic Surgery members (13.4%) provided responses. A total of 91.2% of respondents prescribe opioids to patients undergoing breast augmentation. The most commonly prescribed agents included oxycodone/acetaminophen (Percocet, 47.0%) and hydrocodone/acetaminophen (Vicodin, 38.3%). On average, 165.3 ± 81.7 MMEs were dispensed (range, 25.0-600.0 MMEs; number tablets, 5-60). Prescribers felt that a lack of phone-in prescribing (52.4%) and the ease of preemptively prescribing opioids (52.4%) propagate opioid overprescribing. A total of 61.3% of respondents reported that they are or may be in favor of developing plastic surgery societal guidelines related to opioid prescribing. These respondents indicated support for guidelines on opioid-sparing pain management strategies (74.2%) and guidelines identifying the type (54.7%), duration of use (69.5%), and number of opioid tablets (61.7%) necessary for procedures. CONCLUSIONS: Considerable variability exists among prescribing patterns after breast augmentation. Societal guidelines aimed at providers and patients may serve a future role in opioid prescribing.


Assuntos
Analgésicos Opioides , Mamoplastia , Analgésicos Opioides/uso terapêutico , Humanos , Manejo da Dor , Dor Pós-Operatória/tratamento farmacológico , Padrões de Prática Médica , Estados Unidos
4.
Ophthalmic Plast Reconstr Surg ; 33(1): e4-e7, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-25514664

RESUMO

We present an unusual case of upper eyelid coloboma repair in a patient with Goldenhar syndrome. We describe the use of a modified Cutler-Beard flap with concurrent inlay graft using cartilage from a preauricular appendage. This technique provides the benefits of autologous tissue, while minimizing donor site morbidity and reducing the risk of upper eyelid retraction.


Assuntos
Blefaroplastia/métodos , Coloboma/cirurgia , Pálpebras/anormalidades , Síndrome de Goldenhar/complicações , Pálpebras/cirurgia , Humanos , Recém-Nascido , Masculino , Resultado do Tratamento
5.
Microsurgery ; 35(8): 603-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26409037

RESUMO

INTRODUCTION: Chronic headaches following concussion are debilitating and difficult to treat. Commonly employed initial therapeutic modalities include pharmacologic, physical, and psychological interventions. Despite these efforts, a subset of patients with chronic pain remains. Peripheral nerve surgery has never before been reported as an effective treatment for the management of post-concussion headaches. In this study, we report on our early outcomes following peripheral nerve surgery for this novel indication. METHODS: A retrospective review of 28 consecutive patients with post-concussion headaches who underwent occipital nerve surgery was performed. Preoperative and postoperative headache pain was evaluated on visual analog scale (VAS) in 24 patients with at least 6 months follow-up. RESULTS: The average VAS headache pain reduced from 6.4 preoperatively, to 1.4 (P < 0.0001). Twenty-one patients (88%) had a successful outcome of at least a 50% reduction in their VAS following peripheral nerve surgery. Additionally, twelve patients (50%) were pain free at time of final follow-up. There were no surgical complications. CONCLUSIONS: Early results indicate peripheral nerve surgery is a safe and effective new therapy for post-concussion headaches in the properly selected patients, whose chronic pain persists despite initial treatments by a neurologist, specialized in headache management. Future studies should focus on larger patient populations, and examine the long-term durability of outcome. In the meantime, an interdisciplinary approach involving neurologists and a peripheral nerve surgeon is suggested for the care of patients with refractory chronic post-concussion occipital neuralgia and other post-traumatic chronic headaches.


Assuntos
Concussão Encefálica/complicações , Dor Crônica/cirurgia , Procedimentos Neurocirúrgicos/métodos , Nervos Periféricos/cirurgia , Cefaleia Pós-Traumática/cirurgia , Adolescente , Adulto , Criança , Dor Crônica/diagnóstico , Dor Crônica/etiologia , Feminino , Seguimentos , Humanos , Comunicação Interdisciplinar , Masculino , Pessoa de Meia-Idade , Neurocirurgia , Medição da Dor , Cefaleia Pós-Traumática/diagnóstico , Cefaleia Pós-Traumática/etiologia , Estudos Retrospectivos , Medicina Esportiva , Resultado do Tratamento , Adulto Jovem
6.
J Craniofac Surg ; 26(1): e24-6, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25565231

RESUMO

Cranioplasty can be performed using a number of materials ranging from autologous tissue to metallic or acrylic alloplastic implants. In this report, we present a unique case of revision cranioplasty in a patient with titanium allergy using a prefabricated, custom-made polymethylmethacrylate implant and a modified fixation technique without plates or screws.


Assuntos
Materiais Biocompatíveis/efeitos adversos , Cimentos Ósseos , Neuroma Acústico/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Polimetil Metacrilato , Titânio/efeitos adversos , Idoso , Craniotomia , Remoção de Dispositivo , Feminino , Humanos , Hipersensibilidade/etiologia , Próteses e Implantes , Reoperação , Crânio/cirurgia
7.
Plast Reconstr Surg ; 152(4): 578e-589e, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-36862949

RESUMO

BACKGROUND: Coronavirus disease of 2019 and rising health care costs have incentivized shorter hospital stays after mastectomies with immediate prosthetic reconstruction. The purpose of this study was to compare postoperative outcomes following same-day and non-same-day mastectomy with immediate prosthetic reconstruction. METHODS: A retrospective analysis of the American College of Surgeons National Surgical Quality Improvement Program database from 2007 to 2019 was performed. Patients who underwent mastectomies and immediate reconstruction with tissue expanders or implants were selected and grouped based on length of stay. Univariate analysis and multivariate regression were performed to compare 30-day postoperative outcomes between length-of-stay groups. RESULTS: A total of 45,451 patients were included: 1508 had same-day surgery (SDS) and 43,942 were admitted for 1 or more night (non-SDS). There was no significant difference in overall 30-day postoperative complications between SDS and non-SDS following immediate prosthetic reconstruction. SDS was not a predictor of complications (OR, 1.1; P = 0.346), whereas tissue expander reconstruction decreased odds of morbidity compared with direct-to-implant reconstruction (OR, 0.77; P < 0.001). Among patients who had SDS, smoking was significantly associated with early complications on multivariate analysis (OR, 1.85; P = 0.010). CONCLUSIONS: This study provides an up-to-date assessment of the safety of mastectomies with immediate prosthetic breast reconstruction that captures recent advancements. Postoperative complication rates are similar between same-day discharge and at least 1-night stay, suggesting that same-day procedures may be safe for appropriately selected patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Assuntos
Neoplasias da Mama , Mamoplastia , Humanos , Feminino , Mastectomia/efeitos adversos , Mastectomia/métodos , Estudos Retrospectivos , Mamoplastia/efeitos adversos , Mamoplastia/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia
8.
Plast Reconstr Surg Glob Open ; 10(5): e4318, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35572189

RESUMO

No consensus exists on ideal perioperative management or anticoagulation regimen for free flap reconstruction of the head and neck. Perceived benefits from antiplatelet therapy need to be balanced against potential complications. Ketorolac, a platelet aggregation inhibitor and a parenteral analgesic, was introduced as part of a standardized perioperative protocol at our institution. In this study, we aimed to examine the impact of implementation of this protocol as well as complications associated with the routine use of perioperative ketorolac in a diverse group of patients who underwent head and neck free flap reconstruction. Methods: A single institution retrospective review was performed, including all patients who underwent head and neck free flap reconstruction between October 2016 and November 2019. Patients were divided into two cohorts: those who received ketorolac as part of a standardized protocol, and those who did not. Results: Twenty-four consecutive patients with 24 head and neck free flaps were evaluated. Eighteen patients were in the standard protocol, and six were not. There were no microvascular thromboses, flap failures, or hematomas in either group. Intensive care unit length of stay and opiate use were significantly reduced in the standardized protocol group. Conclusions: A standardized perioperative protocol for head and neck free flap reconstruction can reduce hospital and intensive care unit length of stay. No statistically significant differences in complication rates were identified when comparing ketorolac use and perioperative regimens among patients undergoing a diverse set of microsurgical head and neck free flap reconstructions.

9.
Eplasty ; 19: e17, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31341526

RESUMO

A 57-year-old woman with a 15-year history of a slowly growing fibrous dysplastic maxillary bony tumor underwent total left maxillectomy with subsequent maxillary reconstruction with anterolateral thigh single perforator free flap and orbital floor reconstruction with a titanium mesh implant.

11.
Metabolism ; 55(1): 78-83, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16324923

RESUMO

Severe hypoglycemia, the most serious side effect of sulfonylurea therapy, has been reported to occur more frequently with glyburide than glimepiride. The present studies were undertaken to test the hypothesis that a differential effect on glucagon secretion may be involved. We performed hyperinsulinemic hypoglycemic (approximately 2.5 mmol/L) clamps in 16 healthy volunteers who received in randomized order placebo, glyburide (10 mg), and glimepiride (4 mg) just before beginning the insulin infusion and measured plasma glucagon, insulin, C-peptide, glucagon, epinephrine, cortisol, and growth hormone levels during the clamp and during a 3-hour recovery period after discontinuation of the insulin infusion. Neither sulfonylurea altered glucagon responses or those of other counterregulatory hormones (except cortisol) during the clamp. However, glyburide delayed plasma glucose recovery from hypoglycemia (plasma glucose at end of recovery period: control, 4.9 +/- 0.2 mmol/L; glyburide, 3.7 +/- 0.2 mmol/L; P = .0001; glimepiride, 4.5 +/- 0.2 mmol/L; P = .08). Despite lower plasma glucose levels, glyburide stimulated insulin secretion during this period (0.89 +/- 0.13 vs 1.47 +/- 0.15 pmol x kg(-1) x min(-1), control vs glyburide; P = .001), whereas glimepiride did not (P = .08). Short-term administration of glyburide or glimepiride did not alter glucagon responses during hypoglycemia. In contrast, during recovery from hypoglycemia, glyburide but not glimepiride inappropriately stimulates insulin secretion at low plasma glucose levels. This differential effect on insulin secretion may be an important factor in explaining why glyburide causes severe hypoglycemia more frequently than glimepiride.


Assuntos
Glucose/metabolismo , Glibureto/farmacologia , Hipoglicemia/tratamento farmacológico , Hipoglicemiantes/farmacologia , Compostos de Sulfonilureia/farmacologia , Adulto , Glicemia/metabolismo , Peptídeo C/sangue , Epinefrina/sangue , Feminino , Hormônios/sangue , Hormônio do Crescimento Humano/sangue , Humanos , Hidrocortisona/sangue , Hipoglicemia/sangue , Insulina/sangue , Cinética , Masculino
12.
Plast Reconstr Surg ; 138(1): 298-302, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27348661

RESUMO

New technologies and innovations are common in the delivery of modern health care. Google Glass is one such device gaining increased attention in medical specialties. The authors surveyed residents and attending physicians in the Department of Plastic Surgery, MedStar Georgetown University Hospital, on their experience using Google Glass in the operating room. Ease of use, quality of images, gaze disruption, and distraction during surgery were measured. Overall, subjects found the device to be comfortable and satisfying to wear and use during surgery to capture images of good quality. Despite some identified weaknesses, Google Glass is a unique technology with a promising plastic surgical application in the operating room.


Assuntos
Internet/instrumentação , Salas Cirúrgicas/provisão & distribuição , Procedimentos de Cirurgia Plástica/métodos , Smartphone , Cirurgiões , Gravação em Vídeo/instrumentação , Humanos , Inquéritos e Questionários
13.
Plast Reconstr Surg Glob Open ; 4(4): e675, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27200237

RESUMO

Free tissue transfer to the proximal leg and knee requires appropriate recipient vessel selection. The popliteal vessels have historically been unpopular choices, due to their remote location often necessitating vein grafts, and need for prone positioning. In this report, we describe a lateral approach to the above-knee popliteal vessels, which was utilized for 2 cases of free tissue transfer to the lower extremity. Neither prone positioning nor vein grafts were needed. The lateral approach to the above-knee popliteal vessels and their branches is a viable option for the otherwise recipient vessel-depleted lower extremity.

16.
Plast Reconstr Surg ; 135(2): 611-616, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25357158

RESUMO

BACKGROUND: Diabetics are prone to foot ulceration as a result of local tissue ischemia, immune impairment, and biomechanical derangement in the setting of neuropathy. Healing ulcers in the setting of Charcot neuroarthropathy is challenging, as the skeletal changes usually signify advanced disease. METHODS: Records were reviewed for all patients with the diagnosis of Charcot neuroarthropathy and ulceration treated over a 7-year period. Demographic data, anatomical wound location, therapeutic interventions, and wound healing rates were recorded. RESULTS: Three hundred fourteen wounds in 259 patients were examined. One hundred ninety-three wounds with documented follow-up data were analyzed. Fifty wounds (25.9 percent) were on the forefoot, 73 (37.8 percent) were on the midfoot, 28 (14.5 percent) were on the hindfoot, and 42 (21.8 percent) were about the ankle. Wounds were débrided surgically an average of four times. Primary closure was attempted in 29 wounds (15.0 percent). Delayed primary closure was attempted in 35 wounds (18.1 percent). Bioengineered alternative tissues were used in 61 wounds (31.6 percent). Autologous skin grafting was performed on 41 wounds (21.2 percent). Fifteen local flaps (7.8 percent) and five free flaps (2.6 percent) were performed. Forty-eight patients (31.6 percent) required a major amputation. Excluding patients who underwent major amputation, 95 wounds (65.1 percent) were healed at the time of final follow-up. CONCLUSIONS: The majority of ulcers on Charcot feet required multiple débridements to achieve a clean wound. Multiple therapeutic modalities were used to achieve a 65 percent rate of healing. Despite those efforts, many patients required partial foot or major amputations, with more proximal wounds being at highest risk of the latter.


Assuntos
Artropatia Neurogênica/cirurgia , Pé Diabético/cirurgia , Equipe de Assistência ao Paciente , Procedimentos de Cirurgia Plástica/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Amputação Cirúrgica/métodos , Amputação Cirúrgica/estatística & dados numéricos , Tornozelo/patologia , Tornozelo/cirurgia , Artrodese/estatística & dados numéricos , Terapia Combinada , Comorbidade , Desbridamento/estatística & dados numéricos , Feminino , Deformidades Adquiridas do Pé/etiologia , Deformidades Adquiridas do Pé/patologia , Deformidades Adquiridas do Pé/cirurgia , Humanos , Técnica de Ilizarov/estatística & dados numéricos , Masculino , Medicina , Ossos do Metatarso/patologia , Ossos do Metatarso/cirurgia , Pessoa de Meia-Idade , Osteotomia/estatística & dados numéricos , Estudos Retrospectivos , Transplante de Pele/estatística & dados numéricos , Pele Artificial/estatística & dados numéricos , Retalhos Cirúrgicos/estatística & dados numéricos , Falanges dos Dedos do Pé/patologia , Falanges dos Dedos do Pé/cirurgia , Resultado do Tratamento
17.
Plast Reconstr Surg Glob Open ; 3(1): e298, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25674379

RESUMO

Salmonella osteomyelitis involving the hand is a rare, but potentially morbid, complication of sickle cell disease in children. This entity can be difficult to distinguish from the more frequent presentation of dactylitis, but accurate diagnosis is critical to direct proper treatment. We report on a 15-month-old patient with sickle cell disease who ultimately developed osteomyelitis of 1 hand after an acute vasoocclusive episode caused 4 extremity dactylitis. The case description illustrates the diagnostic and treatment challenges.

18.
Plast Reconstr Surg ; 131(5): 1140-1148, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23629094

RESUMO

BACKGROUND: Although acellular dermal matrix materials have been in use for over a decade in primary and secondary breast reconstruction and in some cosmetic breast surgery, little has been published on the outcomes of these materials for cosmetic applications. METHODS: A retrospective institutional review board-approved review was conducted of all patients who had a specific acellular dermal matrix, Strattice, used for cosmetic breast surgery performed by the senior author (S.L.S.). Patient demographics, indications, surgical findings, and postoperative course were collected and data analyzed using descriptive statistical tools. RESULTS: Between 2008 and 2012, Strattice was used in 43 cosmetic breast operations (75 breasts) performed by the senior author (S.L.S.). Sixty-nine of the 75 breasts (92 percent) were revision operations. Indications included inferior pole support [39 breasts (52 percent)], fold malpositions [28 breasts (37 percent)], capsular contracture [25 breasts (33 percent)], and rippling/palpability [six breasts (8 percent)]. Three patients (six breasts) had Strattice placed during primary augmentation/mastopexy. Seventy-four of the 75 breasts (98.7 percent) had successfully achieved the indication for which the Strattice was placed; one breast (1.2 percent) had some degree of relapse. The global complication rate for all patients in this study is 5.3 percent-two breasts (2.7 percent) had postoperative malposition, one breast (1.2 percent) had bottoming out, and one breast (1.2 percent) developed an infection that resulted in temporary device explantation. CONCLUSIONS: The use of Strattice is safe and may be helpful in the management of certain situations in cosmetic breast surgery, including needed lower pole support, capsular contracture, rippling, and implant malposition. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Derme Acelular , Implantes de Mama , Colágeno , Mamoplastia/métodos , Reoperação/métodos , Cirurgia Plástica/métodos , Adulto , Idoso , Animais , Mama/cirurgia , Contratura/cirurgia , Feminino , Humanos , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/cirurgia , Estudos Retrospectivos , Suínos , Adulto Jovem
19.
Plast Reconstr Surg ; 129(4): 945-954, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22456364

RESUMO

BACKGROUND: The pathoetiology of craniosynostosis is not well understood. It likely results from a combination of genetic and epigenetic phenomena, such as intrauterine constraint from multiple gestations. Information on craniosynostosis in twins is limited to case reports and series. The authors conducted a systematic review and meta-analysis of the literature to elucidate the genetic and nongenetic influences of twins on the pathogenesis of craniosynostosis. METHODS: PubMed and Ovid databases were reviewed for the key terms "craniosynostosis and twins." Data analyzed included demographical information, incidence rates, concordance, and phenotypic variability. Risk factors for craniosynostosis, concordance, and phenotypic variability were assessed by univariate and multivariate analyses. A case series was presented. RESULTS: Data were extracted from 34 journal articles, including the authors' five patients, and representing a total of 199 twins with craniosynostosis. Twinning was 2.62 times greater in patients with craniosynostosis (6.29 percent) compared with unaffected controls (2.4 percent; p < 0.0001). Boys were affected more than girls (65.30 versus 34.70 percent, respectively; p < 0.0001). Monozygotic concordance rates were greater than dizygotic (60.90 versus 5.30 percent, respectively; p < 0.0001) but were not 100 percent. Phenotypic variability was present in 62 percent of monozygotic twin sets (p < 0.05). CONCLUSIONS: Increased concordance rates among monozygotic compared with dizygotic twins confirm the genetic role of twins on craniosynostosis. Evidence to support the epigenetic influence of twinning on the pathogenesis of craniosynostosis includes the elevated incidence of twins among a craniosynostotic population compared with unaffected twins in the general population and male gender predominance, as well as monozygotic phenotypic variability and discordance. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, IV.


Assuntos
Craniossinostoses/genética , Doenças em Gêmeos/genética , Epigênese Genética , Feminino , Humanos , Lactente , Masculino , Gêmeos Dizigóticos , Gêmeos Monozigóticos
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