RESUMEN
OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
Asunto(s)
Niño , Humanos , Masculino , Enanismo , Cara/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X , Genitales Masculinos/anomalías , Factores de Intercambio de Guanina Nucleótido/genética , Deformidades Congénitas de la Mano/genética , Cardiopatías Congénitas , MutaciónRESUMEN
OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
Asunto(s)
Humanos , China , Variaciones en el Número de Copia de ADN/genética , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , LinajeRESUMEN
ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.
RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.
Asunto(s)
Humanos , Femenino , Niño , Adolescente , Displasia Ectodérmica/genética , Displasia Ectodérmica/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/diagnóstico por imagen , Consanguinidad , Degeneración Macular/congénito , Hermanos , Degeneración Macular/genética , Degeneración Macular/diagnóstico por imagenRESUMEN
Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.
Asunto(s)
Humanos , Masculino , Preescolar , Anomalías Múltiples/genética , Deformidades Congénitas de la Mano/genética , Queratodermia Palmoplantar/genética , Pérdida Auditiva Sensorineural/genética , Ictiosis/genética , LinajeRESUMEN
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.
A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.
Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Anomalías Múltiples/patología , Deformidades Congénitas de la Mano/patología , Pérdida Auditiva Sensorineural/patología , Ictiosis/patología , Queratodermia Palmoplantar/patología , Anomalías Múltiples/genética , Deformidades Congénitas de la Mano/genética , Pérdida Auditiva Sensorineural/genética , Ictiosis/genética , Queratodermia Palmoplantar/genética , MutaciónRESUMEN
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of generalized aggressive periodontitis was noticed in these patients. EEC syndrome could be a new addition to the group of genetic disorders associated with aggressive periodontitis.
Asunto(s)
Periodontitis Agresiva/epidemiología , Periodontitis Agresiva/genética , Displasia Ectodérmica/epidemiología , Displasia Ectodérmica/genética , Femenino , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/genética , Humanos , Adulto JovenRESUMEN
Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.
Asunto(s)
Anomalías Múltiples/etiología , Adulto , Niño , Labio Leporino/epidemiología , Labio Leporino/genética , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Análisis por Conglomerados , Displasia Ectodérmica/epidemiología , /genética , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/genética , Dedos/anomalías , Color del Cabello , Humanos , Ictiosis/etiología , Recién Nacido , Aparato Lagrimal/anomalías , Trastornos de la Pigmentación/etiología , Hermanos , Síndrome , Anomalías Urogenitales/etiologíaRESUMEN
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
Asunto(s)
Niño , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/genética , Deformidades Congénitas del Pie/terapia , Asesoramiento Genético , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/terapia , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/epidemiología , Deformidades Congénitas de las Extremidades/genética , Deformidades Congénitas de las Extremidades/terapia , Humanos , Masculino , Diagnóstico Prenatal , Sindactilia/genéticaRESUMEN
Descrição de um caso da síndrome de displasia ectodérmica, ectrodactilia e fissura lábio-palatal (EEC), doença rara com importante acometimento ocular. Paciente de 26 anos, com queixa de dor, fotofobia e baixa acuidade visual no olho esquerdo há três dias, submetida à investigação genética, após exames físico e oftalmológico completos. Foi diagnosticado síndrome EEC e identificadas todas as alterações sistêmicas e oculares. Apresentava uma úlcera paracentral estéril no olho esquerdo, com dificuldades de cicatrização devido às alterações oculares próprias da síndrome (alteração do filme lacrimal, triquíase, ausência de glândulas de Meibomius, entre outras). Foi feita descrição das alterações oculares nessa síndrome rara, para que haja tratamento preventivo e diminuam os riscos de baixa de acuidade visual em pacientes que recebam esse diagnóstico genético.
A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.
Asunto(s)
Humanos , Femenino , Adulto , Labio Leporino/diagnóstico , Displasia Ectodérmica/diagnóstico , Enfermedades Hereditarias del Ojo/diagnóstico , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas de la Mano/diagnóstico , Labio Leporino/genética , Displasia Ectodérmica/genética , Enfermedades Hereditarias del Ojo/genética , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , SíndromeRESUMEN
La cobertura de los defectos cutáneos de la mano representa un desafío desde el punto de vista anatómico y funcional. Se realizó la valoración del empleo del colgajo McGregor para dar cubierta de grandes pérdidas de sustancias de la mano obteniendo una movilización precoz, mejoría funcional y aporte de una cubierta cutánea adecuada
Asunto(s)
Colgajos Quirúrgicos , Mano , Cirugía Plástica/métodos , Deformidades Congénitas de la Mano/genéticaRESUMEN
Se realizó un estudio longitudinal retroprospectivo de 20 pacientes (27 manos) portadores de mano zamba congénita atendidos en el CCOI "Frank País" desde enero de 1980 hasta diciembre de 1995 y que fueron tratados por medio de la técnica del autor. El miembro más afectado resultó el derecho y el sexo predominante, el masculino. Se utilizó la clasificación de Heikel modificada, el tipo IV (65 por ciento) fue más frecuente. Los resultados fueron buenos en 92,6 por ciento de los casos y regulares en 7,4 por ciento
Asunto(s)
Deformidades Congénitas de la Mano/cirugía , Deformidades Congénitas de la Mano/genética , Fijadores Externos , Procedimientos Ortopédicos/métodos , ManoRESUMEN
Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.