RESUMEN
OBJECTIVE@#To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1).@*METHODS@#A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development. Trio-WES revealed that the proband and her daughter, sister and mother have harbored a heterozygous c.224A>G (p.Asn75Ser) variant of the OFD1 gene. The same variant was not found among healthy members from her pedigree.@*CONCLUSION@#The c.224A>G (p.Asn75Ser) variant probably underlay the OFD1 in this pedigree. Above discovery has enriched the spectrum of OFD1 gene variants.
Asunto(s)
Humanos , Femenino , Linaje , Síndromes Orofaciodigitales/genética , Pueblos del Este de Asia , Fenotipo , Heterocigoto , Mutación , ChinaRESUMEN
Febrile seizures are the most common seizures in childhood. They have been observed in 2-5
of children before the age of 5, but in some populations this figure may increase to 15
. It is a common cause of pediatric hospital admissions and cause of anxiety for parents. Febrile seizures could be the first manifestation of epilepsy. About 13
of epileptic patients have a history of febrile seizure, and 30
have had recurrent febrile seizures. Their phenotypic characteristics allow, in the majority of cases, a classification of the seizure, an elaboration of a prognosis and to assume a specific therapeutic attitude. It is possible to describe a spectrum according to their severity, from the benign simple seizure to the more complex, febrile seizure plus, Dravetsyndrome, and FIRES. During the past decade, molecular genetic studies have contributed to the identification of genetic factors involved in febrile seizure and related disorders, making the necessity of a careful follow up of these patients in order to detect risk factors earlier. We have reviewed the medical literature to update current knowledge of febrile seizures, their prognosis and their relation to new epileptic syndromes.
Asunto(s)
Convulsiones Febriles/genética , Epilepsia Generalizada/genética , Convulsiones Febriles/fisiopatología , Niño , Epilepsia Generalizada/fisiopatología , Epilepsias Mioclónicas/fisiopatología , Epilepsias Mioclónicas/genética , Factores de Edad , Femenino , Fenotipo , Humanos , Masculino , Preescolar , Síndromes Orofaciodigitales/fisiopatología , Síndromes Orofaciodigitales/genéticaRESUMEN
Presentamos una revisión bibliográfica actualizada de las alteraciones craneofaciales congénitas y proponemos una clasificación que incluye 4 categorías: fisuras craneofaciales, craneosinostosis, defectos de la dentición y otras alteraciones craneofaciales. Cada una de ellas puede ser malformaciones, deformaciones y disrupciones, presentarse aisladas o formando parte de alteraciones múltiples (defectos politópicos de campo, secuencias o asociaciones). Es importante conocer la causa precisa en cada caso individual para de acuerdo con ello brindar el adecuado asesoramiento genético y la corrección quirúrgica, si es necesario
Asunto(s)
Cráneo/anomalías , Cara/anomalías , Huesos Faciales/anomalías , Labio Leporino , Fisura del Paladar , Craneosinostosis/genética , Cara , Hipertelorismo , Síndromes Orofaciodigitales/genética , Anomalías Dentarias , TrisomíaRESUMEN
Se presentan cuatro pacientes, dos hermanos y dos no relacionados, con retraso mental, hipotonía, macrocefalia, facie especial, agenesia del cuerpo calloso y otras malformaciones congénitas, en los que se diagnosticó un síndrome FG. La agenesia del cuerpo calloso, descrita como un hallazgo ocasional, fue la manifestación que permitió el diagnóstico. Se discuten los diagnósticos diferenciales y los problemas de sesgo en la delineación de síndromes cuando el diagnóstico es clínico y se enfatiza la importancia del diagnóstico exacto en consejo genético