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1.
Medicine (Baltimore) ; 98(33): e16799, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415388

RESUMO

To investigate the characteristics of recurrent branchial cleft anomalies (BCAs) and to evaluate the surgical technique and outcomes of patients undergoing reoperation.From January 2005 to August 2018, the clinical data of 216 patients with recurrent second, third, and fourth BCAs were retrospectively analyzed. According to the embryological and anatomical features of the cleft palate and recurrence site, selective neck dissection techniques were used for surgical treatment.Among all 216 patients, 203 healed by primary healing. Twelve patients with local infections and 1 patient with a pharyngeal fistula healed after dressing changes. Eleven patients experienced transient hoarseness and recovered after a few months. Three patients developed permanent hoarseness, and 5 patients developed coughing after eating and drinking. Three patients underwent internal jugular vein ligation. Only 4 recurrences occurred during a follow-up period of more than 1 year. The total cure rate was 98.15%.Selective neck dissection is an effective and safe surgical treatment for recurrent second, third, and fourth branchial cleft anomalies.


Assuntos
Região Branquial/anormalidades , Anormalidades Craniofaciais/cirurgia , Esvaziamento Cervical/métodos , Doenças Faríngeas/cirurgia , Adolescente , Adulto , Região Branquial/patologia , Região Branquial/cirurgia , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Faríngeas/patologia , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
2.
Medicine (Baltimore) ; 98(23): e15908, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31169704

RESUMO

RATIONALE: Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a very rare multisystem disorder, which shows malformations of the central nervous system, ears, eyes, teeth, and skeleton that was first reported in 1991. Only a few cases that sporadically occurred have been reported worldwide. The research investigating the pathogenesis and patterns of CODAS inheritance is still ongoing. There is no satisfactory treatment for this rare genetic disease yet. Due to the lack of curative medical treatment, rehabilitation could play a major role in treatment for genetic disease. PATIENT CONCERNS: To our best knowledge, the 2 children described in this study are the only CODAS syndromes siblings reported in the world so far. These Korean siblings show highly distinctive features consisting of developmental delay, cataracts, vulnerability to tooth decay, epiphyseal dysplasia, and anomalous ears. DIAGNOSES: CODAS syndrome. INTERVENTIONS: Comprehensive long-term rehabilitation treatment during 5 years. OUTCOMES: We report on the progress of the comprehensive long-term rehabilitation treatment at 5-year follow-up. Their fine motor and language skills development improved similarly to that of same-aged children. We observed the positive effect of rehabilitation on the quality of life. LESSONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.


Assuntos
Anormalidades Craniofaciais/patologia , Anormalidades Craniofaciais/reabilitação , Anormalidades do Olho/patologia , Anormalidades do Olho/reabilitação , Transtornos do Crescimento/patologia , Transtornos do Crescimento/reabilitação , Luxação Congênita de Quadril/patologia , Luxação Congênita de Quadril/reabilitação , Osteocondrodisplasias/patologia , Osteocondrodisplasias/reabilitação , Irmãos , Anormalidades Dentárias/patologia , Anormalidades Dentárias/reabilitação , Criança , Feminino , Humanos , Masculino , Qualidade de Vida , República da Coreia
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.
Hum Genet ; 138(6): 601-611, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30968251

RESUMO

Facial shape differences are one of the most significant phenotypes in humans. It is affected largely by skull shape. However, research into the genetic basis of the craniofacial morphology has rarely been reported. The present study aimed to identify genetic variants influencing craniofacial morphology in northern Han Chinese through whole-exome sequencing (WES). Phenotypic data of the volunteers' faces and skulls were obtained through three-dimensional CT scan of the skull. A total of 48 phenotypes (35 facial and 13 cranial phenotypes) were used for the bioinformatics analysis. Four genetic loci were identified affecting the craniofacial shapes. The four candidate genes are RGPD3, IGSF3, SLC28A3, and USP40. Four single-nucleotide polymorphism (SNP) site mutations in RGPD3, IGSF3, and USP40 were significantly associated with the skull shape (p < 1×10-6), and three SNP site mutations in RGPD3, IGSF3, and SLC28A3 were significantly associated with the facial shape (p < 1×10-6). The rs62152530 site mutation in the RGPD3 gene may be closely associated with the nasal length, ear length, and alar width. The rs647711 site mutation in the IGSF3 gene may be closely associated with the nasal length, mandibular width, and width between the mental foramina. The rs10868138 site mutation in the SLC28A3 gene may be associated with the nasal length, alar width, width between tragus, and width between the mental foramina. The rs1048603 and rs838543 site mutations in the USP40 gene may be closely associated with the pyriform aperture width. Our findings provide useful genetic information for the determination of face morphology.


Assuntos
Ossos Faciais/metabolismo , Loci Gênicos/genética , Polimorfismo de Nucleotídeo Único , Crânio/metabolismo , Sequenciamento Completo do Exoma/métodos , Grupo com Ancestrais do Continente Asiático/genética , Sequência de Bases , China , Anormalidades Craniofaciais/etnologia , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Ossos Faciais/anatomia & histologia , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Crânio/anatomia & histologia
5.
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.
Genome Med ; 11(1): 12, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30819258

RESUMO

BACKGROUND: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). METHODS: Genome-wide analyses by exome sequencing (ES) and chromosomal microarray analysis (CMA) identified individuals with heterozygous, likely damaging, loss-of-function alleles in TCF20. We implemented further molecular and clinical analyses to determine the inheritance of the pathogenic variant alleles and studied the spectrum of phenotypes. RESULTS: We report 25 unique inactivating single nucleotide variants/indels (1 missense, 1 canonical splice-site variant, 18 frameshift, and 5 nonsense) and 4 deletions of TCF20. The pathogenic variants were detected in 32 patients and 4 affected parents from 31 unrelated families. Among cases with available parental samples, the variants were de novo in 20 instances and inherited from 4 symptomatic parents in 5, including in one set of monozygotic twins. Two pathogenic loss-of-function variants were recurrent in unrelated families. Patients presented with a phenotype characterized by developmental delay, intellectual disability, hypotonia, variable dysmorphic features, movement disorders, and sleep disturbances. CONCLUSIONS: TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. Together with previously described cases, the clinical entity of TCF20-associated neurodevelopmental disorders (TAND) emerges from a genotype-driven perspective.


Assuntos
Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Mutação INDEL , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Síndrome de Smith-Magenis/genética , Fatores de Transcrição/genética , Adolescente , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/patologia , Feminino , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Hipotonia Muscular/patologia , Síndrome de Smith-Magenis/patologia , Fatores de Transcrição/metabolismo , Adulto Jovem
7.
Rev. chil. cir ; 71(1): 15-21, feb. 2019. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-985373

RESUMO

Resumen Introducción: Conocer en detalle la inervación interna del músculo temporal humano permite realizar múltiples técnicas quirúrgicas y tratamientos de patologías que involucran al territorio craneofacial. Si bien en la literatura se ha descrito la inervación interna del músculo temporal humano basado en micro-disección directa, la técnica de tinción de Sihler es una herramienta ventajosa para el estudio anatómico ya que permite observar ramos nerviosos pequeños sin perder su relación tridimensional con las fibras musculares. Objetivo: Describir la distribución nerviosa al interior del músculo temporal humano en cadáveres al aplicar el método de Sihler y analizar su asociación anátomo quirúrgica. Materiales y Método: Ocho músculos temporales humanos previamente disecados fueron sometidos al método de tinción de Sihler. Cada una de las muestras se observó bajo lupa estereoscópica y transiluminación; finalmente para su descripción se dividió al músculo en tres regiones. Resultados: Se determinó la presencia de tres troncos nerviosos principales: el temporal profundo anterior, el temporal profundo medio y temporal profundo posterior, los que discurren de profundo a superficial. Además, se observaron ramos colaterales de menor calibre del nervio temporal profundo posterior que en forma de arco comunican las tres regiones del músculo. Conclusión: Se describió una distribución nerviosa interna común para los músculos estudiados en las tres dimensiones del espacio, conocimiento útil para innovar en terapias clínico-quirúrgicas del territorio craneofacial.


Introduction: Knowing in detail the inner innervation of the human temporal muscle allows to perform multiple surgical techniques and treatments of pathologies that involve the craniofacial territory. Although the internal innervation of the human temporal muscle based on direct microdissection has been described in the literature, the Sihler staining technique is an advantageous tool for anatomical study since it allows observing small nerve branches without losing its three-dimensional relationship with muscle fibers. Aim: To describe the nervous distribution within the human temporal muscle in cadavers by applying the Sihler method and analyzing its surgical anatomical association. Materials and Method: Eight previously dissected human temporal muscles were subjected to the Sihler staining method. Each one of the samples was observed under stereoscopic magnification and transillumination, finally for its description the muscle was divided into three regions. Results: The presence of three main nervous trunks was determined: the anterior deep temporal, the deep medium temporal and the posterior deep temporal, those that run from deep to superficial. In addition, collateral branches of lesser caliber of the posterior deep temporal nerve that in the form of an arc communicate the three regions of the muscle were observed. Conclusion: A common internal nervous distribution was described for the muscles studied in the three dimensions of space, useful knowledge to innovate in clinical-surgical therapies of the craniofacial territory.


Assuntos
Humanos , Músculo Temporal/fisiopatologia , Músculo Temporal/diagnóstico por imagem , Rede Nervosa , Músculo Temporal/cirurgia , Anormalidades Craniofaciais/patologia , Vias Neurais
8.
Mol Genet Genomic Med ; 7(4): e00569, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30729724

RESUMO

BACKGROUND: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X-linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. How are SHH-signaling defects related to the complex clinical phenotype of MED12-associated XLID syndromes are not fully understood. METHODS: Quantitative RT-PCR was used to study expression levels of three SHH-signaling genes in lymophoblast cell lines carrying four MED12 mutations from four unrelated XLID families. Genotype and phenotype correlation studies were performed on these mutations. RESULTS: Three newly identified and one novel MED12 mutations in six affected males from four unrelated XLID families were studied. Three mutations (c.2692A>G; p.N898D, c.3640C>T; p.R1214C, and c.3884G>A; p.R1295H) are located in the LS domain and one (c.617G>A; p.R206Q) is in the L domain of MED12. These mutations involve highly conserved amino acid residues and segregate with ID and related congenital malformations in respective probands families. Patients with the LS-domain mutations share many features of FG syndrome and some features of Lujan syndrome. The patient with the L-domain mutation presented with ID and predominant neuropsychiatric features but little dysmorphic features of either FG or Lujan syndrome. Transcript levels of three Gli3-dependent SHH-signaling genes, CREB5, BMP4, and NEUROG2, were determined by quantitative RT-PCR and found to be significantly elevated in lymphoblasts from patients with three mutations in the MED12-LS domain. CONCLUSIONS: These results support a critical role of MED12 in regulating Gli3-dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. Differences in the expression profile of SHH-signaling genes potentially contribute to variability in clinical phenotypes in patients with MED12-related XLID disorders.


Assuntos
Anormalidades Craniofaciais/genética , Complexo Mediador/genética , Retardo Mental Ligado ao Cromossomo X/genética , Mutação de Sentido Incorreto , Adulto , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 4/metabolismo , Células Cultivadas , Anormalidades Craniofaciais/patologia , Proteína A de Ligação a Elemento de Resposta do AMP Cíclico/genética , Proteína A de Ligação a Elemento de Resposta do AMP Cíclico/metabolismo , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Humanos , Masculino , Complexo Mediador/química , Complexo Mediador/metabolismo , Retardo Mental Ligado ao Cromossomo X/patologia , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Linhagem , Domínios Proteicos , Transdução de Sinais
9.
Int J Pediatr Otorhinolaryngol ; 116: 199-203, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30554699

RESUMO

OBJECTIVE: Recurrence rates following preauricular sinus (PAS) surgery vary. Few studies have investigated recurrence after primary PAS surgery in histopathological terms. We performed a histopathological analysis of the causes of revision surgery for PAS, with a view to reducing the recurrence rate after primary surgery. METHODS: We reviewed the medical records of patients who underwent revision surgery after primary excision of a PAS between 2002 and 2017. A pathologist reviewed the histopathology slides. RESULTS: In total, 24 patients underwent revision surgery; of those, histopathology slides were available for 18 patients (19 revisions). The mean interval between primary and revision surgery was 50.4 months. We detected lumen with stratified squamous epithelium in 14 of the 19 (73.7%) revisions. Cartilage tissue was attached to the epithelial lining of the lumen in 14 of the 17 (82.4%) slides containing lumen. Inflammatory changes were found in all slides, and granulation tissue was detected in 10 of 19 revision surgery slides. CONCLUSIONS: To prevent PAS recurrence after primary surgery, we recommend a wide local excision including the inflammatory soft tissue, with concomitant partial removal of the cartilage of the ascending helix adjacent to the PAS.


Assuntos
Anormalidades Craniofaciais/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Reoperação/estatística & dados numéricos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otorrinolaringológicos/efeitos adversos , Complicações Pós-Operatórias/etiologia , Recidiva , Estudos Retrospectivos , Adulto Jovem
10.
Rom J Morphol Embryol ; 59(3): 985-988, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30534844

RESUMO

The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis. The karyotype identified 82% of mitosis with trisomy 8 (47,XY,+8) and 18% with trisomy 21 (47,XY,+21). The evolution was fatal because of eating difficulties, severe growth retardation and recurrent respiratory infections. He died at the age of five months. We report this case as a very rare double autosomal mosaicism, with a complete clinical and morphological description, as the first documented case in Romania.


Assuntos
Aneuploidia , Anormalidades Craniofaciais/genética , Trissomia/genética , Anormalidades Craniofaciais/patologia , Humanos , Recém-Nascido , Masculino , Mosaicismo , Trissomia/patologia
11.
Ann Anat ; 218: 59-68, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29604388

RESUMO

INTRODUCTION: Craniofacial development in mammals is a complex process that involves a coordinated series of molecular and morphogenetic events. Folic acid (FA) deficiency has historically been associated with congenital spinal cord malformations, but the effect that a maternal diet deficient in FA has on the development of other structures has been poorly explored. In the present study, the objective was to describe and quantify the alterations of craniofacial structures presented in mouse foetuses from dams fed a FA deficient (FAD) diet compared with controls that were given a regular maternal diet. MATERIAL AND METHODS: E17 mouse foetuses were removed from dams that were fed with a control diet or with a FAD diet for several weeks. Foetuses with maternal FAD diets were selected for the study when they showed an altered tongue or mandible. Histological sections were used to quantify the dimensions of the head, tongue, mandibular bone and masseter muscle areas using ImageJ software. The muscles of the tongue, suprahyoid muscles, lingual septum, submandibular ducts, and lingual arteries were also analysed. RESULTS: The heads of malformed foetuses were smaller than the heads of the controls, and they showed different types of malformations: microglossia with micrognathia (some of which were combined with cleft palate) and aglossia with either micrognathia or agnathia. Lingual and suprahyoid muscles were affected in different forms and degrees. We also found alterations in the lingual arteries and in the ducts of the submandibular glands. Summarised we can state that pharyngeal arches-derived structures were affected, and the main malformations observed corroborate the vulnerability of cranial neural crest cells to FA deficiency. CONCLUSION: The present study reveals alterations in the development of craniofacial structures in FAD foetuses. This study provides a new focus for the role of FA during embryological development.


Assuntos
Anormalidades Craniofaciais/patologia , Feto/patologia , Deficiência de Ácido Fólico/patologia , Animais , Fissura Palatina/etiologia , Fissura Palatina/patologia , Anormalidades Craniofaciais/etiologia , Dieta , Feminino , Mandíbula/anormalidades , Músculos da Mastigação/patologia , Camundongos , Camundongos Endogâmicos C57BL , Gravidez , Língua/anormalidades , Doenças da Língua/patologia
12.
BMJ Case Rep ; 20182018 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-29444796

RESUMO

Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD (ANKH and GJA1) resulted negative in this patient. The peculiar clinical association and the negativity of genetic analyses allow to hypothesise that other genetic causes, not already known, are responsible for the combination of these pathological conditions. Future studies aim to identify the genetic causes of CMD, which will be important to further understand the pathogenetic mechanism of this rare and invalidating disease.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Hiperostose/diagnóstico , Hipertelorismo/diagnóstico , Adulto , Biópsia , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/patologia , Encéfalo/diagnóstico por imagem , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/patologia , Humanos , Hiperostose/complicações , Hiperostose/patologia , Hipertelorismo/complicações , Hipertelorismo/patologia , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/diagnóstico
13.
Fetal Pediatr Pathol ; 37(1): 27-37, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29336649

RESUMO

BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring. CONCLUSION: When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.


Assuntos
Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/patologia , Anormalidades Craniofaciais/etiologia , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
14.
BMJ Case Rep ; 20182018 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-29330274

RESUMO

Case of cerebrofacial arteriovenous metameric syndrome (CAMS) in a 9-year-old boy is described with arteriovenous malformation simultaneously involving the brain and face, with characteristic CAMS type 1 and 2 involvement. This patient demonstrates the wide spectrum of clinical manifestations of CAMS, and in this particular case, the patient exhibits features of hypopituitarism-an association that was not previously described in the literature to our knowledge. Awareness of the underlying embryological abnormality and recognition of resultant clinical and radiological presentations are paramount for diagnosis and treatment.


Assuntos
Cerebelo/irrigação sanguínea , Angiografia Cerebral , Anormalidades Craniofaciais/patologia , Hipopituitarismo/fisiopatologia , Malformações Arteriovenosas Intracranianas/fisiopatologia , Cerebelo/diagnóstico por imagem , Criança , Tratamento Conservador , Anormalidades Craniofaciais/diagnóstico por imagem , Progressão da Doença , Humanos , Hipopituitarismo/congênito , Hipopituitarismo/diagnóstico por imagem , Hipopituitarismo/terapia , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/terapia , Masculino
15.
Congenit Anom (Kyoto) ; 58(3): 102-104, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-28745802

RESUMO

Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.


Assuntos
Transtornos Cromossômicos/patologia , Anormalidades Craniofaciais/patologia , Epilepsia/patologia , Deficiência Intelectual/patologia , Laringoestenose/patologia , Transtornos Cromossômicos/diagnóstico por imagem , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12/genética , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Progressão da Doença , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Cariotipagem , Laringoestenose/diagnóstico por imagem , Laringoestenose/genética , Masculino , Tomografia Computadorizada por Raios X
17.
Eur J Med Genet ; 61(5): 243-247, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29222009

RESUMO

Recently, 7 patients with de novo constitutional non-synonymous mutations in the CDK13 gene were ascertained through a trio exome analysis of a large cohort of 610 patients with congenital cardiac diseases. Despite another report describing 9 additional patients, the clinical spectrum of this condition has yet to be defined. Herein, we report 3 patients with heterozygous constitutional CDK13 mutations, who were ascertained through exome analysis of children with intellectual disability and minor anomalies, who lacked cardiac anomalies. Two patients had a c.2149G > A, p.Gly717Arg mutation, and one had a c.2525A > G, p. Asn842Ser mutation. A review of the previously described patients and those described herein has enabled the following points to be clarified. First, congenital heart diseases are not an essential feature (13/19). Second, nasal features may help syndromic recognition (14/16). Third, widely spaced and peg-shaped teeth may represent a previously unappreciated diagnostic clue for this newly identified syndrome. Here, we show that p.Gly717Arg represents a hotspot in addition to p.Asn842Ser. We suggest that this CDK13-related disorder may represent a clinically recognizable syndrome.


Assuntos
Proteína Quinase CDC2/genética , Anormalidades Craniofaciais/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Fenótipo , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Feminino , Cardiopatias Congênitas/patologia , Heterozigoto , Humanos , Deficiência Intelectual/patologia , Masculino , Mutação , Síndrome
18.
Tissue Eng Part B Rev ; 24(1): 25-36, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28610544

RESUMO

Sutures are synarthroses connecting the bones of the head with each other through a fibrous sutural ligament. The knowledge of their biomechanical properties is relevant in the application of regenerative techniques for the treatment of craniofacial conditions, such as the sutural distraction osteogenesis (SDO). However, their mechanical characterization has not received a systematic approach, and both clinical treatments and virtual simulations lack clear mechanical parameters. Online databases (PubMed©, Cochrane Library©, Google Scholar©), references of full-text articles, and previous reviews of the literature were searched. Articles quantifying the biomechanical properties of human sutures were included without date, language, or publication restrictions. A qualitative analysis was carried out based on source, sample, load, and measurement characteristics. Subsequently, mechanical parameters were discussed for each suture analyzed. No previous review was found debating the topic. Seven studies were included, only six sutures were analyzed among the about 39 existing ones, and important situations such as compressive and static loading were not considered. Only three studies analyzing the coronal, sagittal, and metopic sutures provided a clear description of the methods and determined parameters of sutures of infants and children. Although a selective load application on sutures is capable of modifying the craniofacial development, little is known about the optimal forces to be applied. The present findings may help to estimate the forces transferred to the sutural ligament during SDO when the strain is measured, and to advance the rationale of the application of certain parameters to optimize the clinical outcome.


Assuntos
Anormalidades Craniofaciais/metabolismo , Anormalidades Craniofaciais/cirurgia , Osteogênese , Estresse Mecânico , Suturas/efeitos adversos , Anormalidades Craniofaciais/patologia , Humanos
19.
J Hum Genet ; 63(1): 97-100, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29215096

RESUMO

Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Sequence variants in the Aristaless-like homeobox 3 (ALX3) gene underlying frontorhiny have been reported previously. Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner. Genome scan using 250k Nsp1 array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. This is the first mutation in the ALX3 gene, underlying frontorhiny, in Pakistani population.


Assuntos
Códon sem Sentido , Anormalidades Craniofaciais/genética , Exoma , Face/anormalidades , Proteínas de Homeodomínio/genética , Anormalidades Craniofaciais/patologia , Análise Mutacional de DNA , Face/patologia , Família , Feminino , Humanos , Masculino , Paquistão , Linhagem
20.
Eur J Med Genet ; 61(5): 248-252, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29274487

RESUMO

Non-recurrent microdeletion (≤2 Mb in size) in 7p22.1 is a rarely described cytogenetic aberration, only recently reported in patients with developmental delay/intellectual disability, short stature and microcephaly. The size of the deletions ranged from 0.37 to 1.5 Mb, and reported genotype-phenotype correlations identified a minimum deleted region of 0.37 Mb involving the FBLX18, ACTB, FSCN1, RNF216 and ZNF815P genes. The authors suggested that deletion of ACTB, which encodes ß-actin, an essential component of the cytoskeleton, could be responsible for the clinical features observed in the patients with a 7p22.1 microdeletion. Here, we describe a 23-month-old child displaying developmental delay, short stature, microcephaly and distinctive facial features. Chromosomal microarray analysis performed using high-resolution SNP-array platform revealed a de novo interstitial 60 Kb microdeletion in the 7p22.1 region (from 5,509,127 bp to 5,569,096 bp, hg19) encompassing only two genes: FBXL18 and ACTB. To the best of our knowledge, this is the smallest deletion at 7p22.1 to date reported in medical literature (Pubmed). Combining our data with phenotypic and genotypic data of cases from literature, we were able to narrow the minimal critical region, which contained only two genes, i.e., FBXL18 and ACTB. Our finding is useful to perform a more accurate genotype-phenotype correlation and strongly strengthen the hypothesis that haploinsufficiency of ACTB is the main cause of the clinical phenotype observed in the patients with 7p22.1 microdeletions, facilitating genetic diagnosis and counseling.


Assuntos
Actinas/genética , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/patologia , Feminino , Haploinsuficiência , Humanos , Lactente , Fenótipo , Síndrome
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