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1.
Medicine (Baltimore) ; 99(28): e21114, 2020 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-32664135

RESUMO

RATIONALE: Cervical chondrocutaneous branchial remnants are rare, benign, congenital anomalies, frequently seen bilaterally. PATIENT CONCERNS: Here, we report the case of a 4-month-old female infant who presented with bilateral lower neck skin tag since birth. DIAGNOSIS AND INTERVENTIONS: The patient underwent mass excision. The final pathological diagnosis was bilateral cervical chondrocutaneous branchial remnants with hyaline cartilage. OUTCOMES: No complications were observed after excision. One-year follow-up revealed no recurrence. LESSONS: Bilateral chondrocutaneous branchial remnants are rare anomalies. They are often associated with cardiac or genitourinary abnormalities. Therefore, additional preoperative imaging of the abdomen and heart are recommended.


Assuntos
Anormalidades Múltiplas , Região Branquial/anormalidades , Cartilagem/anormalidades , Coristoma/diagnóstico , Pescoço/anormalidades , Anormalidades da Pele/diagnóstico , Biópsia , Feminino , Humanos , Lactente
2.
Pediatr Rev ; 41(6): 276-282, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32482690

RESUMO

Neonates often have congenital lumps or sinuses. It is expected that pediatricians will distinguish those with important physiologic implications from those without. Accurate understanding of these lesions is important for the practitioner to avoid unnecessary tests and anxiety and to ensure that seemingly benign lesions with important implications are addressed in a timely manner. This review aims to clarify the consequences of some lesions that can easily be misinterpreted, offering guidance in the initial management of patients with congenital lumps or sinuses. We address several lesions that can easily be misconstrued, including wattles, preauricular lesions, sacral sinuses, second branchial cleft anomalies, torticollis, and dermoid cysts.


Assuntos
Região Branquial/anormalidades , Cisto Dermoide/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Sacro/patologia , Anormalidades da Pele/diagnóstico , Torcicolo/congênito , Humanos , Recém-Nascido , Torcicolo/diagnóstico
4.
Medicine (Baltimore) ; 99(16): e19813, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32311999

RESUMO

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before. DIAGNOSIS: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing. INTERVENTIONS: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH). OUTCOMES: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height. LESSONS: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.


Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/diagnóstico , Contratura/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Cardiopatias Congênitas/diagnóstico , Histona-Lisina N-Metiltransferase/genética , Hipertricose/congênito , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Anormalidades da Pele/diagnóstico , Anormalidades Urogenitais/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Criança , Contratura/diagnóstico , Contratura/terapia , Erros de Diagnóstico , Facies , Genótipo , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/terapia , Hormônio do Crescimento/uso terapêutico , Cardiopatias Congênitas/cirurgia , Humanos , Hipertricose/diagnóstico , Hipertricose/etiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Masculino , Microcefalia/diagnóstico , Microcefalia/terapia , Mutação , Fenótipo , Resultado do Tratamento , Sequenciamento Completo do Exoma/métodos
8.
Tumori ; 106(2): 95-100, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31394967

RESUMO

BACKGROUND: Cancer treatment causes various skin appearance changes, which affect quality of life (QoL) in patients with cancer. We examined whether camouflage makeup improves QoL in these patients. METHODS: Skindex-16 and visual analogue scale scores of 39 female patients with cancer treatment-related skin changes were compared before and 2-3 months after self-administration of camouflage makeup. RESULTS: Camouflage makeup was able to conceal almost all skin changes, improving QoL scores regardless of age, diagnosis, and site of skin changes. Use frequency was significantly higher in patients with skin changes on exposed sites compared with patients with unexposed sites. CONCLUSIONS: Even though the patients applied the makeup only when required, they were satisfied with its effect, which improved their QoL. Moreover, the makeup had a positive effect even in patients with changes in unexposed sites, suggesting that clinicians can recommend camouflage makeup to all patients to improve QoL.


Assuntos
Cosméticos/uso terapêutico , Neoplasias/complicações , Anormalidades da Pele/prevenção & controle , Administração Cutânea , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias/fisiopatologia , Neoplasias/psicologia , Qualidade de Vida/psicologia , Anormalidades da Pele/fisiopatologia , Anormalidades da Pele/psicologia , Inquéritos e Questionários
9.
Clin Exp Dermatol ; 45(2): 141-146, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31529496

RESUMO

Vascular anomalies can cause both emotional and physical distress to patients, particularly children. The paediatric laser service at Great Ormond Street Hospital (GOSH) treats a range of dermatological conditions including a variety of vascular anomalies, excess hair growth and disfiguring scars. The laser team at GOSH has 25 years of experience in treating a wide variety of paediatric dermatological conditions using various laser therapies. With over 600 new referrals for laser therapy and over 1000 laser procedures each year the GOSH laser team has vast amounts of experience with both common and rare conditions. Excellent clinical outcomes continue to be delivered, and new treatment therapies are constantly being developed to treat more recalcitrant lesions. The adverse effect rates experienced by the GOSH laser patients have been decreasing over the past two decades, reaching the low rate of 0.8% per treated patients per year. This remarkable achievement has been continuously improved by integrating specific and standardized laser protocols for each patient treated, to ensure efficacious and safe laser treatment delivery. Treating vascular anomalies with laser therapy creates significant positive results among the paediatric population, thus laser therapy at GOSH makes a significant impact upon children's lives with both rare and common vascular anomalies.


Assuntos
Terapia a Laser , Anormalidades da Pele/terapia , Malformações Vasculares/terapia , Criança , Pré-Escolar , Feminino , Hemangioma/terapia , Humanos , Terapia a Laser/efeitos adversos , Terapia a Laser/métodos , Masculino , Síndromes Neurocutâneas/terapia
10.
Neurosurgery ; 86(1): 93-100, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30690520

RESUMO

BACKGROUND: Limited dorsal myeloschisis (LDM) is postulated to be a result of incomplete dysjunction in primary neurulation. However, clinical experience of LDM located below the first-second sacral (S1-S2) vertebral level, which is formed from secondary neurulation (S2-coccyx), suggested that LDM may not be entirely explained as an error of primary neurulation. OBJECTIVE: To elucidate the location and characteristics of LDM to investigate the possible relation of its pathoembryogenesis to secondary neurulation. METHODS: Twenty-eight patients were surgically treated for LDM from 2010 to 2015. Since the level where the LDM stalk penetrates the interspinous ligament is most clearly defined on the preoperative MRI and operative field, this level was assessed to find out whether the lesions can occur in the region of secondary neurulation. RESULTS: Eleven patients (39%) with typical morphology of the stalk had interspinous defect levels lower than S1-S2. These patients were not different from 17 patients with classic LDMs at a level above or at S1-S2. This result shows that other than the low level of the interspinous level, 11 patients had lesions that could be defined as LDMs. CONCLUSION: By elucidating the location of LDM lesions (in particular, the interspinous level), we propose that LDM may be caused by errors of secondary neurulation. The hypothesis seems more plausible due to the supportive fact that the process of separation between the cutaneous and neural ectoderm is present during secondary neurulation. Hence, incomplete disjunction of the two ectoderms during secondary neurulation may result in LDM, similar to the pathomechanism proposed during primary neurulation.


Assuntos
Neurulação/fisiologia , Anormalidades da Pele/diagnóstico por imagem , Anormalidades da Pele/cirurgia , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Ligamentos Articulares/diagnóstico por imagem , Ligamentos Articulares/embriologia , Ligamentos Articulares/cirurgia , Imagem por Ressonância Magnética/métodos , Masculino , Sacro/diagnóstico por imagem , Sacro/embriologia , Sacro/cirurgia
11.
Cir. plást. ibero-latinoam ; 45(4): 395-402, oct.-dic. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-186026

RESUMO

Introducción y objetivo: El colgajo submentoniano ha sido descrito como alternativa para la cobertura de defectos cutáneos en tercio medio e inferior de la cara y como colgajo microquirúrgico para tratamiento del linfedema secundaria de extremidades, al incorporar en su diseño nódulos linfáticos vascularizados. El presente estudio pretende justificar el uso del colgajo submentoniano en sus distintas variantes con la incorporación tradicional de músculo digástrico, perforante de arteria submentoniana, de flujo reverso o microquirúrgico, y con mínima morbilidad del sitio donador. Material y método: Presentamos una serie de 8 pacientes en los que realizamos un colgajo submentoniano para cobertura de defectos en tercio medio e inferior de cara y de linfedema secundario de extremidad superior. Los colgajos tuvieron dimensiones de 40 a 84 cm2 (media de 62 cm2). Los colgajos fueron pediculados con base en la arteria submentoniana en 4 casos (50%), con preservación del músculo digástrico basado en un vaso perforante de la arteria submentoniana en 2 casos, como colgajo submentoniano de flujo reverso en 1 caso, y como colgajo submental linfático vascularizado en 1 caso. Resultados: Recogimos como complicación una necrosis parcial distal de un 20% en un colgajo submentoniano de flujo reverso, que fue tratada con cicatrización dirigida a segunda intención. La zona donadora se trató en todos los casos con cierre primario. Conclusiones: En nuestra opinión, el colgajo submentoniano es una herramienta útil en la reconstrucción de tejidos blandos del tercio medio e inferior de la zona facial, con un grosor, textura y coloración similares, así como una alternativa en el tratamiento del linfedema secundaria de la extremidad superior


Background and objective: The submental flap has been previously described as an alternative for the coverage of cutaneous defects or the middle and lower thirds of the face, as well as a vascularized lymph node flap for the treatment of secondary lymphedema of the extremities. Our goal is to justify its clinical application, and the use of the variants of the components of the flap and design, either with the inclusion of the digastric muscle, submental perforator, reverse flow or microvascular flap, with minimal complications. Methods: We present a series of 8 patients in which a submental flap was performed to restore cutaneous defects of the middle and lower thirds of the face, and the treatment of secondary lymphedema of the upper extremity. Flaps dimensions were between 40 to 84 cm2 (average of 62 cm2). The flap was designed as submental pedicled flap in 4 cases (50%), with preservation of digastric muscle based on a submental perforator in 2 cases, reverse flow submental flap in 1 case, and as a vascularized submental lymph node transfer flap y 1 case. Results: Complications occurred in 1 of the cases, presented as a partial necrosis of a 30% of a submental reverse flow flap, which healed by secondary intention. Donor site was closed primarily in all the cases. Conclusions: In our opinion, the submental flap is a good choice for the coverage of cutaneous defects of the middle and lower face, providing a thickness, texture and color similar to neighboring tissues, as well as an alternative for the treatment of secondary lymphedema of the upper extremity


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Retalhos Cirúrgicos/cirurgia , Queixo/cirurgia , Carcinoma Basocelular/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Queixo/patologia , Anormalidades da Pele/cirurgia , Neoplasias de Tecidos Moles/cirurgia , Linfedema/cirurgia , Neoplasias da Mama/secundário , Extremidade Superior/patologia , Extremidade Superior/cirurgia , Estudos Retrospectivos
12.
Sensors (Basel) ; 19(22)2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31739464

RESUMO

Over recent years, there has been an increase in popularity of the acquisition of dermoscopic skin lesion images using mobile devices, more specifically using the smartphone camera. The demand for self-care and telemedicine solutions requires suitable methods to guide and evaluate the acquired images' quality in order to improve the monitoring of skin lesions. In this work, a system for automated focus assessment of dermoscopic images was developed using a feature-based machine learning approach. The system was designed to guide the user throughout the acquisition process by means of a preview image validation approach that included artifact detection and focus validation, followed by the image quality assessment of the acquired picture. This paper also introduces two different datasets, dermoscopic skin lesions and artifacts, which were collected using different mobile devices to develop and test the system. The best model for automatic preview assessment attained an overall accuracy of 77.9% while focus assessment of the acquired picture reached a global accuracy of 86.2%. These findings were validated by implementing the proposed methodology within an android application, demonstrating promising results as well as the viability of the proposed solution in a real life scenario.


Assuntos
Dermoscopia/métodos , Processamento de Imagem Assistida por Computador/métodos , Anormalidades da Pele/diagnóstico por imagem , Smartphone , Humanos , Aprendizado de Máquina , Anormalidades da Pele/fisiopatologia , Telemedicina/métodos
15.
Iran J Allergy Asthma Immunol ; 18(4): 441-446, 2019 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-31522452

RESUMO

Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.


Assuntos
Mutação , Neutropenia/diagnóstico , Neutropenia/genética , Fenótipo , Diester Fosfórico Hidrolases/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Alelos , Biomarcadores , Análise Mutacional de DNA , Éxons , Humanos , Lactente , Irã (Geográfico) , Masculino , Pele/patologia
16.
Crit Care ; 23(1): 311, 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31511042

RESUMO

BACKGROUND: In patients with septic shock, the skin is often chosen for the evaluation of peripheral perfusion and oxygenation. Changes in skin microcirculatory vessel oxygen saturation and relative hemoglobin concentration can be described using a mottling score or captured with hyperspectral imaging. However, the effectiveness of the mottling score in assessing microcirculation remains to be shown. We hypothesize that the mottling score in patients with septic shock is related to skin microcirculatory perfusion indices quantified by hyperspectral imaging, biomarkers that reflect endothelium activation and damage, and clinical outcome. METHODS: Hyperspectral imaging of the knee area was performed in 95 intensive care patients with septic shock enrolled in a single-center observational study to obtain relative oxy/deoxyhemoglobin concentration values and construct anatomical maps of skin microcirculatory saturation. The blood was sampled to obtain concentrations of thrombomodulin, plasminogen activator inhibitor-1 (PAI-1), soluble intercellular adhesion molecule-1 (ICAM-1), soluble vascular cell adhesion molecule-1 (VCAM-1), angiopoietin-2, and syndecan-1. The spectrophotometrically obtained skin microvascular perfusion indices were compared to the mottling score and biomarker concentration. The association between mottling score, skin microcirculatory perfusion indices, and 28-day mortality was also analyzed. RESULTS: Microcirculatory oxygen saturation was significantly lower and total hemoglobin concentration was significantly higher in patients with a mottling score of 2 compared to those with a score of 0 (p = 0.02), with no difference between other scores. We found an association between microcirculatory oxygen saturation and PAI-1 levels (rho = - 0.3; p = 0.007). Increased mottling score and decreased microcirculatory oxygen saturation were predictive of 28-day mortality (mottling score 2 vs 0: OR 15.31, 95% CI 4.12-68.11; microcirculatory oxygen saturation: OR 0.90, 95% CI 0.85-0.95). Endothelial biomarkers did not increase the predictive value of skin microcirculatory perfusion indices. CONCLUSIONS: Higher mottling scores are associated with lower microcirculatory oxygen saturation but with significant overlap between scores. Microcirculatory oxygen saturation is a quantitative measure of peripheral oxygenation and is more specific than the mottling score in predicting 28-day mortality.


Assuntos
Endotélio/irrigação sanguínea , Microcirculação/fisiologia , Perfusão/classificação , Choque Séptico/complicações , Anormalidades da Pele/classificação , Idoso , Biomarcadores/análise , Biomarcadores/sangue , Endotélio/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos de Pesquisa/normas , Projetos de Pesquisa/estatística & dados numéricos , Choque Séptico/sangue , Choque Séptico/fisiopatologia , Estatísticas não Paramétricas
17.
J. Health Biol. Sci. (Online) ; 7(4): 432-435, 30/09/2019.
Artigo em Português | LILACS | ID: biblio-1023541

RESUMO

Relato de caso: apresentamos um caso de diagnóstico ecográfico pré-natal de ictiose de Arlequim, que evoluiu com óbito intrauterino. Conclusão: esse distúrbio caracteriza-se por um neonato envolto por uma membrana espessa de material córneo com fissuras generalizadas, comprometendo as funções básicas da pele e predispondo o recém-nascido a infecções e a alterações metabólicas. Com prognóstico desfavorável, o diagnóstico precoce e o tratamento de suporte visam aumentar a sobrevida e melhorar a qualidade de vida ao neonato.


Case report: we present a case of prenatal ultrasound diagnosis of ichthyosis of Harlequin, which evolved with intrauterine decease. Conclusion: this disorder is characterized by a neonate wrapped in a thick membrane off horny material with generalized fissures that compromise the basic functions of the skin, predisposing the newborn to infections and metabolic alterations. With a reserved prognosis, early diagnosis and supportive care aim to increase survival and improve the quality of life of the newborn.


Assuntos
Ictiose , Anormalidades da Pele , Anormalidades Congênitas
19.
J Dermatol ; 46(11): 1014-1018, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31392773

RESUMO

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently identified autosomal dominant genetic syndrome with mutations in FAM111B. Herein, we report a 14-month-old girl who presented with progressive poikiloderma on the face. Her 24-year-old mother had an identical facial poikiloderma, hyperpigmentation, mottling and Blaschko line hypopigmentation on the trunk and limbs, as well as severe tendon contractures. Next-generation sequencing based on a targeted gene capture panel revealed a missense mutation in the FAM111B gene p.Phe416Ser (c.1247T>C). Her mother had the same mutation as the proband. Moreover, this mutation was absent in the unaffected father and maternal grandparents. Based on the clinical manifestations and genetic analysis, the proband and her mother were diagnosed with POIKTMP. Protein modeling indicated that the mutation p.Phe416Ser dramatically changed the protein structure, especially its structural stability, and affected the protein function. This is the first report of POIKTMP in a Chinese family due to a novel FAM111B mutation. Furthermore, we have reviewed the genotype-phenotype correlation, differential diagnoses and management of POIKTMP.


Assuntos
Proteínas de Ciclo Celular/genética , Esclerose/genética , Anormalidades da Pele/genética , Dermatopatias Genéticas/genética , China , Contratura/genética , Feminino , Humanos , Lactente , Doenças Musculares/genética , Mutação de Sentido Incorreto , Fibrose Pulmonar/genética , Tendinopatia/genética , Adulto Jovem
20.
BMC Med Genet ; 20(1): 132, 2019 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-31366388

RESUMO

BACKGROUND: FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited developmental defects of the eyelid area, while in type 1 female patients additionally suffer from POI. The following case study is the first report of endocrine impairments typical for menopausal transition in young female with NG_012454.1:g.138665342G > A, c.223C > T p.(Leu75Phe), mutation in FOXL2 gene. This mutation has been reported in the literature before, however until now, it was never linked to BPES type 1. CASE PRESENTATION: An 18-year-old nulliparous woman suspected of secondary amenorrhea was referred to our Endocrinology Outpatient Clinic. Blood tests revealed decreased levels of AMH (anti-Mullerian hormone) and increased levels of gonadotropins, suggesting menopausal transition. Her past medical history was remarkable for several ophthalmic defects that has required surgical interventions. BPES syndrome had not been suspected before, although the patient had reported a similar phenotype occurring in her father, sister and half-sister. Venous blood samples were collected from the female proband and from her three family members. Whole-exome sequencing and deep amplicon sequencing were performed. A potential pathogenic variant in the FOXL2 gene was revealed. Namely, the c.223C > T p.(Leu75Phe) missense variant was detected. CONCLUSIONS: The authors found mutations, c.223C > T p.(Leu75Phe) in the FOXL2 gene in a young woman with hormonal disorders suggesting menopausal transition. These results indicate that the possibility of different phenotypes should be considered in patients with a similar genetic mutation.


Assuntos
Blefarofimose/genética , Proteína Forkhead Box L2/genética , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Mutação , Insuficiência Ovariana Primária/genética , Anormalidades da Pele/genética , Anormalidades Urogenitais/genética , Adolescente , Amenorreia , Blefarofimose/fisiopatologia , Pálpebras , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Hormônios/sangue , Humanos , Linhagem , Fenótipo , Insuficiência Ovariana Primária/fisiopatologia , Anormalidades da Pele/fisiopatologia , Síndrome , Anormalidades Urogenitais/fisiopatologia , Sequenciamento Completo do Exoma
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