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1.
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
2.
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
3.
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
4.
Medicina (Kaunas) ; 55(3)2019 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-30934652

RESUMO

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the clinical, trichoscopic, and genetic features of a rare case of Griscelli syndrome; moreover, we provide an overview of all the GHSs known to date. Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival.


Assuntos
Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/genética , Doenças Raras/diagnóstico , Doenças Raras/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/imunologia , Anormalidades Múltiplas/patologia , Adulto , Síndrome de Chediak-Higashi/diagnóstico , Síndrome de Chediak-Higashi/genética , Síndrome de Chediak-Higashi/imunologia , Síndrome de Chediak-Higashi/patologia , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/imunologia , Anormalidades Craniofaciais/patologia , Diagnóstico Diferencial , Feminino , Cabelo/anormalidades , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/imunologia , Perda Auditiva Neurossensorial/patologia , Humanos , Hipertricose/induzido quimicamente , Iris/anormalidades , Masculino , Mutação , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/imunologia , Síndromes Neurocutâneas/patologia , Piebaldismo/diagnóstico , Piebaldismo/genética , Piebaldismo/imunologia , Piebaldismo/patologia , Transtornos da Pigmentação/imunologia , Transtornos da Pigmentação/patologia , Qualidade de Vida , Doenças Raras/imunologia , Doenças Raras/patologia , Anormalidades da Pele , Proteínas rab27 de Ligação ao GTP/genética
6.
Methods Mol Biol ; 1922: 407-452, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30838594

RESUMO

Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerous syndromes (Bloch-Zupan A, Sedano H, Scully C. Dento/oro/craniofacial anomalies and genetics, 1st edn. Elsevier, Boston, MA, 2012). Concerning amelogenesis imperfecta (AI), for example, mutations in a number of genes have been reported to cause isolated AI, including AMELX, ENAM, KLK4, MMP20, FAM83H, WDR72, C4orf26, SLC24A4, and LAMB3. In addition, many other genes such as DLX3, CNNM4, ROGDI, FAM20A, STIM1, ORAI1, and LTBP3 have been shown to be involved in developmental syndromes with enamel defects. The clinical presentation of the enamel phenotype (hypoplastic, hypomineralized, hypomature, or a combination of severities) alone does not allow a reliable prediction of possible causative genetic mutations. Understanding the potential genetic cause(s) of rare diseases is critical for overall health management of affected patient. One effective strategy to reach a genetic diagnosis is to sequence a selected gene panel chosen for a determined range of phenotypes. Here we describe a laboratory protocol to set up a specific gene panel for orodental diseases.


Assuntos
Anormalidades Craniofaciais/genética , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Doenças Raras/genética , Anormalidades Dentárias/genética , Amelogênese Imperfeita/diagnóstico , Amelogênese Imperfeita/genética , Anormalidades Craniofaciais/diagnóstico , DNA/genética , Desenho de Equipamento , Sequenciamento de Nucleotídeos em Larga Escala/instrumentação , Humanos , Doenças Raras/diagnóstico , Anormalidades Dentárias/diagnóstico
9.
Ann Otol Rhinol Laryngol ; 128(4): 360-364, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30607978

RESUMO

OBJECTIVES:: To describe a case of bilateral ear canal cholesteatomas in the setting of underlying first branchial cleft cyst anomalies and to review the pathophysiology underlying the development of external auditory canal cholesteatomas from branchial cleft cyst abnormalities. METHODS AND RESULTS:: We present a case study of a 61-year-old man who presented with chronic right-sided hearing loss and left-sided postauricular drainage. Clinical evaluation, radiographic work-up, and pathologic analysis confirmed a diagnosis of bilateral ear canal cholesteatoma in the setting of underlying first branchial cleft cyst anomalies. The patient's clinical course, surgical treatment, and management considerations are discussed here. CONCLUSION:: Ear canal cholesteatoma represents a rare clinical disease entity deserving a thorough initial assessment. Careful consideration of underlying diseases that result in chronic inflammation, such as branchial cleft lesions, should be included in the differential diagnosis of idiopathic canal cholesteatoma in the absence of prior otologic surgery or trauma.


Assuntos
Região Branquial/anormalidades , Colesteatoma , Anormalidades Craniofaciais , Meato Acústico Externo , Perda Auditiva Unilateral , Procedimentos Cirúrgicos Otológicos/métodos , Doenças Faríngeas , Região Branquial/cirurgia , Colesteatoma/diagnóstico , Colesteatoma/etiologia , Colesteatoma/fisiopatologia , Colesteatoma/cirurgia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/cirurgia , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/patologia , Perda Auditiva Unilateral/diagnóstico , Perda Auditiva Unilateral/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Faríngeas/complicações , Doenças Faríngeas/diagnóstico , Doenças Faríngeas/cirurgia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
10.
J Craniofac Surg ; 30(2): e169-e170, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30653037

RESUMO

Branchial cleft anomalies occur due to insufficient closure of cavities during embryogenesis. These anomalies consist of cysts, sinuses, and fistulas, with the rarest type being fistulas. A 29-year-old male presented at the authors' clinic with a right-sided complete third branchial cleft fistula. Fistula track excision surgery was successfully performed and no recurrence was observed in the 12-month follow-up after the surgery. While second branchial cleft fistula is the most common, third and fourth brancial cleft fistulas are extremely rare. In addition, they are usually incomplete and almost always on the left side.


Assuntos
Região Branquial/anormalidades , Anormalidades Craniofaciais , Fístula , Doenças Faríngeas , Adulto , Região Branquial/cirurgia , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/cirurgia , Fístula/diagnóstico , Fístula/cirurgia , Humanos , Masculino , Doenças Faríngeas/diagnóstico , Doenças Faríngeas/cirurgia
11.
Int J Pediatr Otorhinolaryngol ; 117: 57-60, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30579089

RESUMO

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Surdez/etiologia , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Deficiência Intelectual/etiologia , Unhas Malformadas/etiologia , Proteínas de Transporte/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/terapia , Surdez/terapia , Potenciais Evocados Auditivos , Feminino , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/terapia , Auxiliares de Audição , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/terapia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Mutação , Unhas Malformadas/complicações , Unhas Malformadas/diagnóstico , Unhas Malformadas/terapia , Tomografia Computadorizada por Raios X
12.
Prenat Diagn ; 39(2): 116-123, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30578730

RESUMO

OBJECTIVES: To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD: Fetuses with ultrasound-detected hypoplastic nasal bone (absent or <2.5th percentile in length) between 16 and 37 weeks' gestation over a 10-year period were analysed retrospectively. RESULTS: A total of 118 cases of hypoplastic nasal bone met the inclusion criteria. A pathogenic or potentially pathogenic karyotype was detected more frequently in the era where CMA was available (31/60, 52% vs 19/58, 33%). Of these, 25 cases (42%) had common aneuploidies, and six cases (10%) had clinically relevant copy number variants (CNVs). A clinically relevant CNV was detected in two fetuses that presented with isolated hypoplastic nasal bone on initial ultrasound. CONCLUSION: In addition to its known association with trisomy 21, a hypoplastic nasal bone may be an objective marker of facial dysmorphism associated with clinically relevant CNVs. Our results support consideration of invasive testing with microarray for pregnancies in which a hypoplastic nasal bone has been diagnosed on ultrasound irrespective of a low-risk screening result for common chromosomal abnormalities.


Assuntos
Aberrações Cromossômicas/embriologia , Anormalidades Craniofaciais/diagnóstico , Variações do Número de Cópias de DNA , Análise em Microsséries , Osso Nasal/anormalidades , Adulto , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/embriologia , Variações do Número de Cópias de DNA/genética , Feminino , Testes Genéticos/métodos , Idade Gestacional , Humanos , Osso Nasal/diagnóstico por imagem , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Trissomia/diagnóstico , Trissomia/genética , Ultrassonografia Pré-Natal
13.
Am J Med Genet A ; 176(12): 2896-2900, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30548146

RESUMO

Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mutations in Malan syndrome are located. She did not have advanced bone age. The radiographs of long bones showed metaphyseal changes which were not reported previously. This study reports the first mutation proven case from India and highlights the overlap between MSS and Malan syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Estudos de Associação Genética , Genótipo , Fatores de Transcrição NFI/genética , Fenótipo , Displasia Septo-Óptica/diagnóstico , Displasia Septo-Óptica/genética , Alelos , Pré-Escolar , Análise Mutacional de DNA , Éxons , Facies , Feminino , Estudos de Associação Genética/métodos , Humanos , Mutação , Radiografia
14.
Am J Med Genet A ; 176(12): 2740-2750, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30548201

RESUMO

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features (micro/anophtalmia, cataract, thyroid agenesis, polymicrogyria, olfactory bulb hypoplasia, and mandibular cleft), and emphasize the high frequency of nasal polyps in OAFNS (56%). We report the negative results of ALX1, ALX3, and ALX4 genes sequencing and next-generation sequencing strategy performed on blood-derived DNA from respectively, four and four individuals. Exome sequencing was performed in four individuals, genome sequencing in one patient with negative exome sequencing result. Based on the data from this series and the literature, diverse hypotheses can be raised regarding the etiology of OAFNS: mosaic mutation, epigenetic anomaly, oligogenism, or nongenetic cause. In conclusion, this series represents further clinical delineation work of the rare OAFNS, and paves the way toward the identification of the causing mechanism.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Orelha Externa/anormalidades , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Padrões de Herança , Fenótipo , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/genética , Coluna Vertebral/anormalidades , Adolescente , Criança , Pré-Escolar , Proteínas de Ligação a DNA/genética , Facies , Feminino , Proteínas de Homeodomínio/genética , Humanos , Lactente , Recém-Nascido , Masculino , Locos de Características Quantitativas , Crânio/anormalidades , Crânio/diagnóstico por imagem , Tomografia Computadorizada Espiral , Fatores de Transcrição/genética , Sequenciamento Completo do Exoma
15.
Medicine (Baltimore) ; 97(50): e13644, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30558059

RESUMO

RATIONALE: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the literature. PATIENTS CONCERNS: Herein we present clinical and radiological data regarding 2 siblings with SPENCD. Both patients exhibited short stature, cervical platyspondyly, growth disturbance with multiple skeletal deformities of the wrist, and systemic lupus erythematosus related autoimmunity. They experienced prolonged pain in the temporomandibular joint (TMJ) area and exhibited delayed dental development. One patient presented with midface hypoplasia, retrognathic mandible, and anterior openbite. Computed tomographic images demonstrated delayed spheno-occipital synchondrosis, obtuse cranial base angle, overdeveloped and anteriorly displaced sphenoidal sinuses, and compressed ethmoidal sinuses. DIAGNOSIS: The genetic analysis revealed heterozygous for a missense mutations at ACP5 in both probands. INTERVENTIONS: Routine follow-up with conservative treatment were conducted for 12 months. OUTCOMES: The elder sister's orofacial pain was relieved but the boy showed sustained masticatory and cervical muscle pain and TMJ arthralgia which had changed in accordance with systemic condition. No further teeth eruption or skeletal growth was observed in 2 siblings during the follow-up period. LESSONS: These findings extend the phenotypic spectrum of SPENCD and indicate that compromised endochondral ossification and the loss of TRAP activity may affect altered dentofacial development and orofacial symptoms.


Assuntos
Doenças Autoimunes , Tratamento Conservador/métodos , Anormalidades Craniofaciais , Lúpus Eritematoso Sistêmico , Osteocondrodisplasias , Fosfatase Ácida Resistente a Tartarato/genética , Articulação Temporomandibular , Adolescente , Assistência ao Convalescente , Artralgia/diagnóstico , Artralgia/etiologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Doenças Autoimunes/fisiopatologia , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/imunologia , Anormalidades Craniofaciais/fisiopatologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/etiologia , Masculino , Mutação de Sentido Incorreto , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Osteocondrodisplasias/imunologia , Osteocondrodisplasias/fisiopatologia , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/fisiopatologia , Tomografia Computadorizada por Raios X/métodos , Erupção Dentária
16.
Am J Med Genet C Semin Med Genet ; 178(4): 447-457, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30580486

RESUMO

Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. However, the precise genetic etiology for this rare condition remains elusive. Comparative microarray analyses of individuals with Nablus syndrome (including two mother-son pairs) reveal an overlapping 8q22.1 microdeletion, with a minimal critical region of 1.84 Mb (94.43-96.27 Mb). Whereas this deletion is present in all affected individuals, 13 individuals without Nablus syndrome (including two mother-child pairs) also have the 8q22.1 microdeletion that partially or fully overlaps the minimal critical region. Thus, the 8q22.1 microdeletion is necessary but not sufficient to cause the clinical features characteristic of Nablus syndrome. We discuss possible explanations for Nablus syndrome, including one-locus, two-locus, epigenetic, and environmental mechanisms. We performed exome sequencing for five individuals with Nablus syndrome. Although we failed to identify any deleterious rare coding variants in the critical region that were shared between individuals, we did identify one common SNP in an intronic region that was shared. Clearly, unraveling the genetic mechanism(s) of Nablus syndrome will require additional investigation, including genomic and RNA sequencing of a larger cohort of affected individuals. If successful, it will provide important insights into fundamental concepts such as variable expressivity, incomplete penetrance, and complex disease relevant to both Mendelian and non-Mendelian disorders.


Assuntos
Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/diagnóstico , Blefarofimose/classificação , Blefarofimose/diagnóstico , Anormalidades Craniofaciais/classificação , Anormalidades Craniofaciais/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Anormalidades Múltiplas/terapia , Blefarofimose/terapia , Anormalidades Craniofaciais/terapia , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/terapia , Humanos , Metanálise como Assunto , Fenótipo
17.
Clin Dysmorphol ; 27(4): 126-129, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29985174

RESUMO

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Síndrome de Down/diagnóstico por imagem , Aneuploidia , Autopsia/métodos , Anormalidades Craniofaciais/etiologia , Síndrome de Down/fisiopatologia , Face/anormalidades , Feminino , Feto , Humanos , Masculino , Gravidez , Trissomia , Ultrassonografia Pré-Natal/métodos
18.
J Appl Genet ; 59(3): 281-289, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29845577

RESUMO

Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30-60% of patients, CS is caused by known genetic factors; however, in the rest of the cases, causative molecular lesions remain unknown. In this paper, we report on a sporadic male patient affected by complex CS (metopic and unilateral lambdoid synostosis), muscular hypotonia, psychomotor retardation, and facial dysmorphism. Since a subset of CS results from submicroscopic chromosomal aberrations, we performed array comparative genomic hybridization (array CGH) in order to identify possibly causative copy-number variation. Array CGH followed by breakpoint sequencing revealed a previously unreported de novo 1.26 Mb duplication at chromosome 1q22-q23.1 that encompassed two genes involved in osteoblast differentiation: BGLAP, encoding osteocalcin (OCN), and LMNA, encoding lamin A/C. OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone deformities, and delayed closure of the cranial sutures. Since LMNA and BGLAP overexpression promote osteoblast differentiation and calcification, phenotype of our patient may result from misexpression of the genes. Based on our findings, we hypothesize that both LMNA and BGLAP may be implicated in the pathogenesis of CS in humans. However, further studies are needed to establish the exact pathomechanism underlying development of this defect.


Assuntos
Craniossinostoses/genética , Duplicação Gênica , Lamina Tipo A/genética , Hipotonia Muscular/genética , Osteocalcina/genética , Transtornos Psicomotores/genética , Diferenciação Celular , Aberrações Cromossômicas , Cromossomos Humanos Par 1 , Anormalidades Craniofaciais/diagnóstico , Humanos , Lactente , Masculino , Osteoblastos/metabolismo
19.
Rev Chil Pediatr ; 89(1): 92-97, 2018 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29664509

RESUMO

INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. CLINICAL CASE: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). CONCLUSIONS: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.


Assuntos
Anormalidades Múltiplas/diagnóstico , Alopecia/diagnóstico , Cerebelo/anormalidades , Anormalidades Craniofaciais/diagnóstico , Transtornos do Crescimento/diagnóstico , Hidrocefalia/congênito , Síndromes Neurocutâneas/diagnóstico , Pré-Escolar , Humanos , Hidrocefalia/diagnóstico , Recém-Nascido , Masculino , Rombencéfalo
20.
J Coll Physicians Surg Pak ; 28(5): 403-405, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29690975

RESUMO

Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene.


Assuntos
Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , Anormalidades Craniofaciais/diagnóstico , Ectromelia/diagnóstico , Mutação da Fase de Leitura , Hipertelorismo/diagnóstico , Anormalidades Craniofaciais/genética , Ectromelia/genética , Humanos , Hipertelorismo/genética , Recém-Nascido , Masculino , Mutação , Análise de Sequência de DNA
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