Roberts Syndrome With a Bilateral Cleft Lip and Palate.

ABSTRACT: Roberts syndrome (RBS) is a rare craniofacial anomaly associated with tetraphocomelia, growth and mental retardation, cardiac and renal abnormalities. The RBS is caused by homozygous mutation in the ESCO2 gene on chromosome 8p21. In this report, the authors describe a 5-year-old female infant with RBS and bilateral cleft lip and cleft palate, an extremely rare condition.

Pfeiffer Syndrome: A Therapeutic Algorithm Based on a Modified Grading Scale.

BACKGROUND: Pfeiffer syndrome (PS) is a very rare condition with a wide clinical spectrum. There are only a few studies that address the classification and treatment of PS and take into account the most commonly presented clinical features. Thus, the objectives of this study are to propose an algorithm for PS management based on a modified severity scale and correlate PS severity with tracheostomy placement. METHODS: An observational retrospective study was performed on consecutive patients with PS (n = 12), who underwent surgery between 2008 and 2018. Clinical features and findings of all included patients with PS were classified as types A, B, and C, which guided treatment workflow. The Fisher test was used to correlate the severity of patients with PS with tracheostomy placement. RESULTS: There were 12 patients, classified as type A (n = 3), type B (n = 6), and type C (n = 3). All patients who received tracheostomies (n = 6) were stratified into the severe category (n = 9; types B and C) (P < 0.05). There were 4 minor complications, and 1 major complication according to a modified Clavien-Dindo surgical complication scale. CONCLUSION: A treatment algorithm based on the 3 different Pfeiffer types was proposed. Severity of PS statistically correlates to tracheostomy placement.

Syngnathia in Spectrum of Oromandibular Limb Hypogenesis Syndrome.

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 14 mm of mouth opening.

Avaliação do ensino e aprendizagem de noções básicas de tratamento de queimados entre alunos do curso de medicina / Assessment of teaching and learning burn treatment basics among medical students

Introdução: Agravo de grande importância biopsicossocial, queimadura é um tema crucial na formação médica, uma vez que recém-formados se deparam com pacientes que sofreram queimaduras nos mais variados cenários profissionais. Métodos: Este estudo avaliou o ensino e a aprendizagem do tema queimaduras em alunos do curso de Medicina de uma faculdade pública do Estado de São Paulo; foi aplicado um questionário específico para avaliar o conhecimento sobre o atendimento inicial ao paciente queimado na primeira série (grupo 1 - 54 estudantes), e na sexta série (grupo 2 - 60 estudantes). Resultados: Observou-se, no grupo 1, grande desconhecimento sobre o tema, com média geral de desconhecimento ("erros") de 70,98% e de acertos de 29,02%; no grupo 2, essas taxas foram de 36,66 % e 63,34 %, respectivamente. Somente 63,34% dos alunos do sexto ano conseguiriam conduzir adequadamente o tratamento de um paciente queimado e, consequentemente, oferecer a este paciente um melhor prognóstico. Conclusões: Os dados são preocupantes, uma vez que não se verificou conhecimento nem preparo adequados dos formandos para atendimento de pacientes queimados, e que queimaduras são situações de emergência que exigem intervenção médica rápida, adequada e eficiente, a fim de reduzir a morbimortalidade das vítimas.

Introduction: Burns, an injury of high biopsychosocial importance, are a crucial issue in medical training, and newly graduated students face burn patients in a variety of professional settings. Methods: This study assessed the teaching and learning of burns among medical students at a public facility in the State of São Paulo; a specific questionnaire was applied to evaluate first year (Group 1: 54 students) and sixth year (Group 2: 60 students) medical students' knowledge about the initial care of burn patients. Results: In Group 1, there was a substantial lack of knowledge about the subject, with a general average incorrect answer rate ("errors") of 70.98% and a correct answer rate of 29.02%; in Group 2, these rates were 36.66% and 63.34%, respectively. Only 63.34% of the sixth-year students would be able to adequately conduct the treatment of a burn patient, gauged by their ability to offer a patient a better prognosis. Conclusions: The data are disturbing, since adequate knowledge and preparation of the trainees for the care of burn patients has not been verified, and burns are emergency situations that require prompt, adequate, and efficient medical intervention to reduce patients' morbidity and mortality.