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1.
Medicine (Baltimore) ; 99(45): e23033, 2020 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-33157955

RESUMO

INTRODUCTION: Microdeletion syndromes occur from deletion of 5Mb of a chromosome in approximately 5% of patients with unexplained intellectual disability. Interstitial microdeletions at bands 1p33 and 1p32.2 of the short arm of chromosome 1 are rare and have not been previously reported in relation to disease. PATIENT CONCERNS: We present a case of a 39-month boy with Pierre Robin sequence, development delay/intellectual disability, growth retardation, short stature, leukoencephalopathy, craniofacial dysplasia, and speech delay. The child was referred to the Child health care department in October 2014 for his delayed language development and aggravated aggression. DIAGNOSIS: Molecular diagnostic testing with G-band karyotyping was normal but clinical microarray analysis detected a 10 Mb microdeletion at 1p33p32.2. INTERVENTIONS: The patient received rehabilitation. OUTCOMES: Three candidate genes were pinpointed to the deleted area, including ORC1, SCP2, and DAB1. Phenotype-genotype analysis suggested that these three genes are likely to be responsible for the main phenotypes observed in the patient, such as microcephaly, growth retardation, short stature, leukoencephalopathy, and development delay/intellectual disability. CONCLUSIONS: The spectrum of phenotypes this case presented with are likely to be caused by 1p33p32.2 deletion which could represent a new microdeletion syndrome.


Assuntos
Cariotipagem/métodos , Análise em Microsséries/métodos , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Proteínas de Transporte/genética , Criança , Pré-Escolar , Deleção Cromossômica , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Nanismo/diagnóstico , Nanismo/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/genética , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Proteínas do Tecido Nervoso/genética , Complexo de Reconhecimento de Origem/genética , Fenótipo , Síndrome de Pierre Robin/reabilitação
2.
Medicine (Baltimore) ; 99(27): e20995, 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32629717

RESUMO

RATIONAL: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilatation and rupture of intestinal lymphatic channels leading to protein-losing enteropathy. IL is classified as primary and secondary types. PATIENT CONCERNS: A 3-month-old girl born at term from vaginal delivery with an APGAR score of 10/10 and birth weight of 4.310 g (>97° percentile) was admitted to our hospital because of increasing abdominal tenderness and diarrhea. At first examination, she presented an abdominal circumference of 60 cm, edema of the lower extremities and vulva, and facial dysmorphisms (hypertelorism, flat nasal bridge, flat mid-face). DIAGNOSIS: Once admitted, ultrasonography showed a large amount of ascites, while blood laboratory investigations revealed severe hypoproteinemia, hypoalbuminemia and hypogammaglobulinemia. Lymphoscintigraphy with 99m-Tc-nanocolloid demonstrated abnormal leakage of the tracer in the abdomen as evidence of IL. To detect a possible secondary, exams were performed and demonstrated positive antibody titres for CMV-IgM and IgG in blood and CMV-DNA positivity in blood, urine, saliva, maternal milk, and gastric and duodenal biopsies. Genetic investigations identified the genomic variant c.472C>T of the CCBE1 gene, coding for a protein variant (p.Arg158Cys), in homozygosity. INTERVENTIONS: Total parenteral nutrition was started and continued for a total of 18 days, then gradually bridged by enteral nutrition with a special formula. In addition, antiviral therapy for CMV infection was added first with intravenous ganciclovir for 14 days, resulting in the disappearance of blood viral load after 7 days of therapy and then with valganciclovir per os for another 30 days. OUTCOMES: The clinical course of the child gradually improved. A few days after starting treatments, lower extremities and vulvar edema disappeared, and abdominal circumference gradually decreased to a stable value of 38 cm, without any ultrasonographic signs of ascites left. Moreover, serum albumin and IgG rose to normal values after 3 months (4.3 g/dL and 501 mg/dL, respectively). LESSONS: This case suggests that in presence of IL both primary and secondary causes should be evaluated. On the other hand, genetic diagnosis is crucial not only for diagnosis but also for prognosis in HS. Life expectancy and quality could deeply vary among different gene mutations and protein variants of the same gene. Further studies and case reports are needed to better understand the clinical meaning of these genetic results and the role of CMV as trigger of IL.


Assuntos
Anormalidades Craniofaciais/genética , Linfangiectasia Intestinal/genética , Linfedema/genética , Proteínas de Ligação ao Cálcio/genética , Anormalidades Craniofaciais/diagnóstico , Feminino , Humanos , Lactente , Linfangiectasia Intestinal/diagnóstico , Linfedema/diagnóstico , Mutação , Proteínas Supressoras de Tumor/genética
3.
Adv Exp Med Biol ; 1236: 137-155, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32304072

RESUMO

The formation of the head and face is a complex process which involves many different signaling cues regulating the migration, differentiation, and proliferation of the neural crest. This highly complex process is very error-prone, resulting in craniofacial defects in nearly 10,000 births in the United States annually. Due to the highly conserved mechanisms of craniofacial development, animal models are widely used to understand the pathogenesis of various human diseases and assist in the diagnosis and generation of preventative therapies and treatments. Here, we provide a brief background of craniofacial development and discuss several rare diseases affecting craniofacial bone development. We focus on rare congenital diseases of the cranial bone, facial jaw bones, and two classes of diseases, ciliopathies and RASopathies. Studying the animal models of these rare diseases sheds light not only on the etiology and pathology of each disease, but also provides meaningful insights towards the mechanisms which regulate normal development of the head and face.


Assuntos
Anormalidades Craniofaciais , Modelos Animais de Doenças , Cabeça/embriologia , Animais , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/prevenção & controle , Anormalidades Craniofaciais/terapia , Face/embriologia , Humanos , Crista Neural/embriologia , Crânio/embriologia
4.
Gene ; 742: 144542, 2020 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-32184166

RESUMO

Homozygous loss-of-function variants in MYO18B have been associated with congenital myopathy, facial dysmorphism and Klippel-Feil anomaly. So far, only four patients have been reported. Comprehensive description of new cases that help to highlight recurrent features and to further delineate the phenotypic spectrum are still missing. We present the fifth case of MYO18B-associated disease in a newborn male patient. Trio exome sequencing identified the previously unreported homozygous nonsense variant c.6433C>T, p.(Arg2145*) in MYO18B (NM_032608.5). While most phenotypic features of our patient align with previously reported cases, we describe the prenatal features for the first time. Taking the phenotypic description of our patient into account, we propose that the core phenotype comprises a severe congenital myopathy with feeding difficulties in infancy and characteristic dysmorphic features.


Assuntos
Anormalidades Craniofaciais/genética , Síndrome de Klippel-Feil/genética , Hipotonia Muscular/genética , Miosinas/genética , Proteínas Supressoras de Tumor/genética , Idade de Início , Consanguinidade , Anormalidades Craniofaciais/diagnóstico , Análise Mutacional de DNA , Humanos , Lactente , Síndrome de Klippel-Feil/classificação , Síndrome de Klippel-Feil/diagnóstico , Mutação com Perda de Função , Masculino , Hipotonia Muscular/diagnóstico , Linhagem , Sequenciamento Completo do Exoma
5.
PLoS Genet ; 16(2): e1008300, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32092051

RESUMO

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and is caused by mutations in EFNB1. Heterozygous females are more severely affected by CFNS than hemizygous males, a phenomenon called cellular interference that results from EPHRIN-B1 mosaicism. In Efnb1 heterozygous mice, mosaicism for EPHRIN-B1 results in cell sorting and more severe phenotypes than Efnb1 hemizygous males, but how craniofacial dysmorphology arises from cell segregation is unknown and CFNS etiology therefore remains poorly understood. Here, we couple geometric morphometric techniques with temporal and spatial interrogation of embryonic cell segregation in mouse mutant models to elucidate mechanisms underlying CFNS pathogenesis. By generating EPHRIN-B1 mosaicism at different developmental timepoints and in specific cell populations, we find that EPHRIN-B1 regulates cell segregation independently in early neural development and later in craniofacial development, correlating with the emergence of quantitative differences in face shape. Whereas specific craniofacial shape changes are qualitatively similar in Efnb1 heterozygous and hemizygous mutant embryos, heterozygous embryos are quantitatively more severely affected, indicating that Efnb1 mosaicism exacerbates loss of function phenotypes rather than having a neomorphic effect. Notably, neural tissue-specific disruption of Efnb1 does not appear to contribute to CFNS craniofacial dysmorphology, but its disruption within neural crest cell-derived mesenchyme results in phenotypes very similar to widespread loss. EPHRIN-B1 can bind and signal with EPHB1, EPHB2, and EPHB3 receptor tyrosine kinases, but the signaling partner(s) relevant to CFNS are unknown. Geometric morphometric analysis of an allelic series of Ephb1; Ephb2; Ephb3 mutant embryos indicates that EPHB2 and EPHB3 are key receptors mediating Efnb1 hemizygous-like phenotypes, but the complete loss of EPHB1-3 does not fully recapitulate the severity of CFNS-like Efnb1 heterozygosity. Finally, by generating Efnb1+/Δ; Ephb1; Ephb2; Ephb3 quadruple knockout mice, we determine how modulating cumulative receptor activity influences cell segregation in craniofacial development and find that while EPHB2 and EPHB3 play an important role in craniofacial cell segregation, EPHB1 is more important for cell segregation in the brain; surprisingly, complete loss of EPHB1-EPHB3 does not completely abrogate cell segregation. Together, these data advance our understanding of the etiology and signaling interactions underlying CFNS dysmorphology.


Assuntos
Movimento Celular/genética , Anormalidades Craniofaciais/genética , Efrina-B1/genética , Crista Neural/embriologia , Crânio/anormalidades , Animais , Anormalidades Craniofaciais/diagnóstico , Modelos Animais de Doenças , Embrião de Mamíferos , Desenvolvimento Embrionário/genética , Efrina-B1/metabolismo , Feminino , Heterozigoto , Humanos , Masculino , Camundongos , Camundongos Knockout , Mosaicismo , Mutação , Crista Neural/citologia , Fenótipo , Receptores da Família Eph/genética , Receptores da Família Eph/metabolismo , Índice de Gravidade de Doença , Fatores Sexuais , Crânio/embriologia , Cromossomo X/genética
6.
BMC Med Genet ; 21(1): 7, 2020 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-31910817

RESUMO

BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION: In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Citocinas/genética , Diagnóstico Pré-Natal , Sequenciamento Completo do Exoma , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/patologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Recém-Nascido , Pais , Gravidez
7.
Int J Pediatr Otorhinolaryngol ; 131: 109897, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31981915

RESUMO

Duplication of the pituitary gland (DPG) is a phenomenon with no clear syndromic association. This case adds to the literature as a DPG-plus syndrome patient with multiple fusion defects of unknown etiology, fetal risk factors of first trimester tobacco usage and intrauterine drug exposure. An 8-month old female presented with noisy breathing, poor feeding, cleft palate, seizures and failure to thrive. MRI scan revealed duplicate pituitary gland, tubomammillary fusion, absent cleavage of brainstem and superior cerebellar peduncles, and cervical spinal malformations. We performed an airway evaluation, with a glossomandibulopexy for glossoptosis, and a primary palate repair.


Assuntos
Artéria Basilar/anormalidades , Fissura Palatina/complicações , Anormalidades Craniofaciais/complicações , Hipófise/anormalidades , Fissura Palatina/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Feminino , Humanos , Lactente , Imagem por Ressonância Magnética , Síndrome
8.
Ital J Pediatr ; 45(1): 138, 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31703719

RESUMO

BACKGROUND: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. CASE PRESENTATION: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. CONCLUSIONS: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Deficiência Intelectual/diagnóstico , Deficiências da Aprendizagem/diagnóstico , Neurofibromatoses/diagnóstico , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 17 , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/psicologia , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/psicologia , Neurofibromatoses/complicações , Neurofibromatoses/psicologia
9.
J Otolaryngol Head Neck Surg ; 48(1): 61, 2019 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-31711544

RESUMO

BACKGROUND: The purpose of this study was to develop an effective management algorithm for lesions of third or fourth branchial sinuses. STUDY DESIGN: Case series with chart review. METHODS: Data from patients who were identified as having third or fourth branchial pouch sinus lesions in a single institution between January 2014 and December 2018 were retrospectively collected. RESULTS: All 67 patients underwent fistulectomy. First, we classified the patients into five types based on their anatomic features. Then, we considered four optimized surgical methods and adopted the appropriate method with full consideration of the patient's clinical characteristics. The great majority of cases occurred on the left side of the neck (68.7%) and most commonly presented as either a recurrent low-neck abscess or cutaneous discharging fistula with neck infection. Effective preoperative examination included administering contrast agent prior to a computed tomography (CT) scan and in-office laryngoscopy during the quiescent period of inflammation. Ultrasound was also very helpful in determining the presence of thyroiditis. The mean follow-up duration after excision of the lesion was 25.8 months. To date, only 1 (1.5%) recurrence and no obvious complications have been observed. CONCLUSION: Refining fistula subtypes and adopting corresponding treatment measures can reduce the recurrence rate and improve curative effects. We propose and advocate this treatment algorithm for all third and fourth branchial pouch lesions.


Assuntos
Região Branquial/anormalidades , Anormalidades Craniofaciais/cirurgia , Fístula Cutânea/cirurgia , Doenças Faríngeas/cirurgia , Adolescente , Adulto , Algoritmos , Região Branquial/cirurgia , Criança , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , Fístula Cutânea/complicações , Fístula Cutânea/diagnóstico , Feminino , Humanos , Lactente , Laringoscopia , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Doenças Faríngeas/complicações , Doenças Faríngeas/diagnóstico , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
10.
Indian Pediatr ; 56(9): 792-794, 2019 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-31638014

RESUMO

BACKGROUND: Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder. CASE CHARACTERISTICS: A 26-day-old neonate presented with feeding difficulties, excessive sleeping, and hirsutism over forehead and lumbosacral skin. OUTCOME: Whole-exome sequencing identified a novel nonsense mutation. MESSAGE: We report a novel mutation in a Chinese neonate with Bainbridge-Ropers syndrome.


Assuntos
Códon sem Sentido , Anormalidades Craniofaciais/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Hipotonia Muscular/diagnóstico , Transtornos Psicomotores/diagnóstico , Fatores de Transcrição/genética , Anormalidades Craniofaciais/genética , Distúrbios do Sono por Sonolência Excessiva/genética , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/genética , Feminino , Marcadores Genéticos , Hirsutismo/diagnóstico , Hirsutismo/genética , Humanos , Recém-Nascido , Hipotonia Muscular/genética , Transtornos Psicomotores/genética , Síndrome
11.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 54(10): 699-706, 2019 Oct 09.
Artigo em Chinês | MEDLINE | ID: mdl-31607009

RESUMO

A rare disease, also referred to as an orphan disease, is defined as the disease with a low prevalence or that affects a small percentage of the population. It is a well model of human disease, which can facilitate the in-depth study and understanding of related diseases. Therefore, five Chinese governmental authorities, including the National Health Commission of the People's Republic of China, jointly issued the "First National Directory of Rare Diseases" (the First List) on May 11, 2018. The First List covers 121 rare indications. In the analysis of the directory, we found that among the 121 diseases, there are 51 (42.2%) with oral characterization. Oral manifestations mainly include craniofacial abnormalities, dentition (dental) abnormalities, oral soft tissue lesions, jaw bone lesions, salivary gland related diseases, etc., even some of them are the first, earliest and inevitable clinical manifestations of some patients with rare diseases. In order to strengthen the understanding of stomatological counterparts on the importance of the national directory of rare diseases and deeply understand the important and irreplaceable role of stomatologists in the diagnosis and treatment of rare diseases, the present review article is specifically written to introduce the oral characterization of the rare diseases listed in the catalogue, aiming at improving the diagnosis and treatment capabilities of these diseases by peers and benefiting the public.


Assuntos
Anormalidades Craniofaciais , Medicina Bucal , Doenças Raras , China , Anormalidades Craniofaciais/diagnóstico , Humanos , Doenças Raras/diagnóstico
12.
BMJ Case Rep ; 12(8)2019 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-31471355

RESUMO

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Linfangiectasia Intestinal/diagnóstico , Linfedema/diagnóstico , Fenótipo , Vértebras Cervicais , Quilotórax/diagnóstico , Quilotórax/etiologia , Anormalidades Craniofaciais/complicações , Erros de Diagnóstico , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Linfangiectasia Intestinal/complicações , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/etiologia , Linfedema/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/etiologia
16.
Int J Pediatr Otorhinolaryngol ; 125: 175-181, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31326735

RESUMO

OBJECTIVE: The objective of this study is to describe the clinical and pathologic features of a rare congenital neck anomaly, a sternoclavicular sinus, and review the literature on this topic. STUDY DESIGN: This study is a retrospective case series of four subjects diagnosed with a sternoclavicular sinus. METHODS: Patients with a congenital neck anomaly, distinct from common branchial cleft anomalies, were identified through a 10-year retrospective chart review of a tertiary care pediatric otolaryngology practice. RESULTS: We describe four patients with a congenital neck anomaly with common features of a sternoclavicular anomaly. All patients presented with a superficial neck anomaly adjacent to the sternoclavicular joint. Surgical excision through an external approach was successfully performed in three out of the four patients with subsequent resolution of symptoms. The literature review compiles all the cases presented. Theories on embryologic origin include incomplete fusion of sternum and clavicle or unusual remnant of a fourth branchial cleft. Commonalities include left sided predominance, squamous epithelium lined sinus tract ending at the sternoclavicular junction, and successful surgical excision in almost all cases. CONCLUSION: A sternoclavicular sinus is a rarely described congenital neck abnormality. Presentation and management is similar to branchial cleft anomaly but with a distinct anatomical pathway that is important for surgeons to recognize. LEVEL OF EVIDENCE: This manuscript presents a case series. The level of evidence proposed is Level 4.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Pescoço/anormalidades , Seios Paranasais/anormalidades , Criança , Pré-Escolar , Anormalidades Craniofaciais/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
18.
Niger J Clin Pract ; 22(7): 1029-1031, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31293273

RESUMO

Ascher syndrome is a disease that is characterized by upper eyelid edema, double lip, and swelling in the thyroid glands whose etiology is unknown, and it is usually seen in young people over the age of 20. Blepharochalasis and double lip are observed in these patients as a result of the recurring lip and upper eyelid edema. The disease is benign and seen in both sexes and all races in about the same amounts. Although this syndrome rarely leads to functional problems, it usually leads to psychological problems in the patients it affects due to the malformations on their faces. In this case presentation, we reported the surgical treatment of a 27-year-old patient diagnosed with Ascher syndrome and displayed double lip based on this syndrome.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Pálpebras/anormalidades , Lábio/anormalidades , Lábio/cirurgia , Adulto , Anormalidades Craniofaciais/cirurgia , Edema , Pálpebras/cirurgia , Humanos , Masculino , Comportamento Sexual , Síndrome , Glândula Tireoide , Resultado do Tratamento
19.
Artigo em Chinês | MEDLINE | ID: mdl-31163564

RESUMO

Congenital preauricular fistula can be sporadic or genetic. When inherited, it exhibits incomplete autosomal dominant genetic patterns. It can occur alone or with other diseases such as branchio-oto-renal syndrome. According to the position of fistula opening, congenital ear fistula can be divided into four categories: congenital preauricular fistula, congenital posterior ear fistula, congenital auricular fistula and congenital external auditory canal fistula. Congenital auricle fistula can be subdivided into congenital auricular fistula, congenital teal fistula, congenital earlobe fistula and so on. The diagnosis of preauricular fistula should be based on its clinical manifestation, and the diagnosis and treatment of special type of preauricular fistula should be emphasized. The treatment methods of congenital preauricular fistula include medicine, incision and surgical excision. According to the clinical practice of us and other scholars, surgical treatment is recommended in the period of acute infection, and the recurrence rate is not increased. The operation method of preauricular fistula, the application of microscope, dye tracer, probe and general anesthesia, and the clear surgical visualization are all helpful to reduce the recurrence rate.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/patologia , Orelha Externa/patologia , Fístula/classificação , Fístula/cirurgia , Humanos , Recidiva
20.
J Coll Physicians Surg Pak ; 29(6): S37-S40, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31142416

RESUMO

Traboulsi syndrome is characterised by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis and multiple anterior segment abnormalities. The constellation of abnormalities separate it from syndromes related to connective tissue abnormalities which are associated with ectopia lentis. We report five females with distinctive spontaneous filtering blebs, ectopia lentis and other anterior segment abnormalities and no systemic features other than flat cheeks and beaking of nose. The cases are being managed conservatively in the Cornea and Glaucoma departments of Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Ectopia do Cristalino/diagnóstico , Iris/anormalidades , Adolescente , Adulto , Anormalidades Craniofaciais/genética , Ectopia do Cristalino/genética , Ectopia do Cristalino/patologia , Feminino , Humanos , Pressão Intraocular , Adulto Jovem
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