We present the case of a girl with complete tetraploidy who has survived to her present age of 4 years and 1 month. Infants with complete tetraploidy have been described to have a limited lifespan owing to complications. We report her characteristics, medical history, and development.

Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.

A right aortic arch is an anomaly of prenatal development characterized by location of aortic arch to the right from tracheal-esophageal complex. This variant of anatomy is usually asymptomatic and diagnosed accidentally. We performed open upper lobectomy for cancer of the upper lobe of the right lung in a patient with aortic arch dextraposition. Classical right-sided upper lobectomy in patients with right aortic arch is associated with certain difficulties. The most difficult objective is total excision of lymph nodes because trachea is hidden under aortic arch. A specific complication may be postoperative hoarseness associated with iatrogenic damage to the right recurrent laryngeal nerve.
Правая дуга аорты — аномалия внутриутробного развития, которая характеризуется расположением дуги аорты справа от трахеоприщеводного комплекса. Данный вариант анатомии чаще всего не имеет клинической картины и обнаруживается случайно при диагностике по другим причинам. Нами была выполнена открытая верхняя лобэктомия по поводу рака верхней доли правого легкого у пациента с декстрапозицией дуги аорты. Необходимо отметить, что выполнение классической верхней лобэктомии справа у пациентов с правой дугой аорты сопряжено с определенными трудностями. Наиболее сложная задача заключается в радикальном иссечении лимфоузлов ввиду того, что трахея скрыта под дугой аорты. Специфическим осложнением может являться послеоперационная охриплость, связанная с повреждением правого возвратного гортанного нерва из-за его расположения в операционном поле.

UNASSIGNED: To describe the oral finding, physical features and medical features with the genetic diagnosis of a Pentasomy X.
UNASSIGNED: A 6-year-old female patient was referred for oral evaluation presenting acute pain related to ulcers in the attached gingival and dorsum of tongue mucosa. Medical history revealed Pentasomy X associated with interatrial communication, convergent strabismus, recurrent seizures, dysautonomia, episodes of thrombosis and cognitive delay with limited oral communication skills. A palliative oral treatment was applied. Oral hygiene improvement and surveillance were decided considering the absence of dental hypersensitivity, post eruptive enamel breakdowns or dental caries. Less than 30 cases had been reported in the literature, reflecting the rare nature of this genetic disorder and with great difficulties to perform dental treatment. As regards the oral health status of these patients, with an emphasis on dental care, information is totally lacking.
UNASSIGNED: Oral care in patients with genetic syndromes must consider the status in general health to prevent medical complications associated with oral disease or dental treatment. Minimal intervention and surveillance are appropriate options in customized therapy.
UNASSIGNED: Describir los hallazgos orales, características físicas y médicas con el diagnóstico genético de una pentasomía X.
UNASSIGNED: Paciente de 6 años remitida para evaluación bucal por presentar dolor agudo relacionado con úlceras en la encía adherida y dorso de la lengua. La historia clínica reveló pentasomía X asociada con comunicación interauricular, estrabismo convergente, convulsiones recurrentes, disautonomía, episodios de trombosis y retraso cognitivo con habilidades limitadas de comunicación oral. Se aplicó un tratamiento oral paliativo. Se decidió la mejora de la higiene oral y la vigilancia considerando la ausencia de hipersensibilidad dental, fracturas de esmalte poseruptivas o caries dental. Se han reportado menos de 30 casos en la literatura, lo que refleja la naturaleza rara de este trastorno genético y con grandes dificultades para realizar el tratamiento odontológico. En cuanto al estado de salud bucal de estos pacientes, con énfasis en el cuidado dental, la información es poca.
UNASSIGNED: El cuidado bucal en pacientes con síndromes genéticos debe considerar el estado de salud general para prevenir complicaciones médicas asociadas con enfermedades bucales o tratamientos odontológicos. La intervención mínima y la vigilancia son opciones apropiadas en la terapia personalizada.

UNASSIGNED: Congenital pulmonary hypoplasia (CPH) is a rare pulmonary disease featured by incomplete development of pulmonary tissues. Its diagnosis is still a challenge as patients are usually misdiagnosed as atelectasis.
UNASSIGNED: A female neonate was admitted to our hospital due to post-birth jaundice for 12 hrs. Physical examination showed accelerated breathing. There was no respiratory sound in the left lung. Chest film indicated decline of lucency in the left lung. Chest CT scan indicated absence of left lung and primary bronchus of the left lung. The boundary between left mediastinum was not clearly displayed. Three-dimensional CT scan indicated absence of left lung and left principal bronchus. Cardiac ultrasonography confirmed congenital heart disease. She showed ectopic kidney. Finally, she was diagnosed with CPH concurrent with congenital heart disease and ectopic kidney.
UNASSIGNED: On 17-month follow-up visit, the patient is still survived, but she presents with obstruction in ventilation function.

Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3-4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.

BACKGROUND: Individuals with major birth defects are at increased risk of developing cancer, indicating a common aetiology. However, whether the siblings of individuals with birth defects are also at an increased risk of cancer is unclear.
METHODS: We used nationwide health registries in four Nordic countries and conducted a nested case-control study. We included 40 538 cancer cases (aged 0-46 years) and 481 945 population controls (matched by birth year and country), born between 1967 and 2014. The relative risk of cancer among individuals whose siblings had birth defects was computed with odds ratios (OR) and 95% confidence intervals (CIs), using logistic regression models.
RESULTS: In the total study population (aged 0-46 years), we observed no overall difference in cancer risk between individuals whose siblings had birth defects and those who had unaffected siblings (OR 1.02; 95% CI 0.97-1.08); however, the risk of lymphoid and haematopoietic malignancies was elevated (1.16; 1.05-1.28). The overall risk of childhood cancer (0-19 years) was increased for siblings of individuals who had birth defects (1.09; 1.00-1.19), which was mainly driven by lymphoma (1.35; 1.09-1.66), neuroblastoma (1.51; 1.11-2.05) and renal carcinoma (5.03; 1.73-14.6). The risk of cancer also increased with the number of siblings with birth defects (Ptrend = 0.008).
CONCLUSIONS: Overall risk of cancer among individuals (aged 0-46 years) whose siblings had birth defects was not elevated, but the risk of childhood cancer (ages 0-19 years) was increased. Our novel findings are consistent with the common aetiologies of birth defects and cancer, such as shared genetic predisposition and environmental factors.

The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow\'s peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed \"nasopalpebral lipoma sine coloboma syndrome.\" Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome.

Gemination is a rare phenomenon in the maxillary posterior teeth. Endodontic treatment of these teeth requires special care due to the bizarre anatomy particularly when it is accompanied by a C-shaped canal system. This report illustrates a patient with a rare geminated C-shaped maxillary second molar comprised of two sections in its crown, including a geminated section attached to a normal coronal of a second maxillary molar diagnosed with the pulpal status \"necrosis\" and \"irreversible pulpitis\" in geminated section and the molar respectively. Thus, endodontic treatment was performed on both parts of the tooth. Two months follow-up revealed well-functioning teeth with normal status of periapical tissue with no mobility or abnormality. Successful treatment of unusual anatomical teeth requires adherence to biomechanical principles of canal preparation and coronal restoration.

This report describes anatomical variations in an indigenous patient from the Brazilian Amazon. A 13-year-old indigenous girl attended the dental clinic for a routine examination. Clinically, a change in the coronary morphology of all upper incisors was observed; characterized by a shovel-shaped lingual surface-a feature considered a polygenic hereditary trait commonly found in native American people. The x-ray examination revealed the presence of a root anomaly in the left upper central incisor. A cone-beam computed tomography (CBCT) scan was performed, revealing the presence of a supernumerary root located on the lingual surface. A single wide canal, which bifurcated in the middle-third level into two canals with different foramina, was observed in the cervical portion. It is essential for dental surgeons to be aware of possible anatomical differences, especially considering the origin of the patient, to avoid interference in treatment success.