ABSTRACT
El espectro óculo-aurículo-vertebral, también conocido como microsomia hemifacial, es un cuadro heterogéneo y complejo, caracterizado por la presencia de anomalías auriculares, asimetría facial y alteraciones vertebrales. Su etiología no está aún aclarada, y se especula sobre la intervención de ciertos factores ambientales que alteran el desarrollo del primer y segundo arcos branquiales. La mayoría de los casos son esporádicos, pero se han descrito casos familiares, la mayor parte con un patrón de herencia autosómica dominante, lo que apoyaría la intervención de mecanismos genéticos en el origen del cuadro. En este trabajo se presentan dos familias con un espectro óculo-aurículo-vertebral y un patrón de herencia autosómico recesivo, raro en esta entidad (AU)
Oculo-auriculo-vertebral spectrum also known as hemifacial microsomia, is a complex and heterogeneous condition characterized by ear anomalies, facial asymmetry and vertebral malformations. Although its etiology has not been yet elucidated, some environmental factors have been linked to defects of the development of the first and second branchial arches. Despite of most of the reported cases have been sporadic, some familial cases have also been described, the majority with an autosomal dominant inheritance pattern, which supports the genetic contribution to its etiology. Here, we report two families with oculo-auriculo-vertebral spectrum and autosomal recessive inheritance, rarely seen in this entity (AU)
Subject(s)
Humans , Male , Child, Preschool , Child , Goldenhar Syndrome/diagnosis , Facial Asymmetry/diagnosis , Branchial Region/embryology , Chromosome Disorders/diagnosisABSTRACT
The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for â¼ 70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.
Subject(s)
Cell Cycle Proteins/genetics , Chromosomal Proteins, Non-Histone/genetics , De Lange Syndrome/genetics , Intellectual Disability/genetics , Adolescent , Chromosomes, Human, X , De Lange Syndrome/physiopathology , Genes, Duplicate , Humans , Intellectual Disability/physiopathology , Male , Phenotype , CohesinsABSTRACT
El síndrome alcohólico fetal (SAF) se define como un defecto congénito permanente causado por el consumo excesivo de alcohol materno durante el embarazo. Se caracteriza por un crecimiento disminuido, una alteración del sistema nervioso central y un conjunto de alteraciones faciales menores. La incidencia estimada es de 0,33-2,2/1.000 recién nacidos vivos en Estados Unidos. Hasta los años noventa no hubo una serie de criterios unificados y objetivos para llegar al diagnóstico de SAF. Se presenta el caso clínico de un niño de 5 años y 10 meses con este síndrome. El objetivo de este artículo es revisar los criterios diagnósticos del SAF y su actualización
Fetal alcohol syndrome (FAS) is defined as a permanent birth defect syndrome caused by maternal alcohol abuse during pregnancy. It is characterized by growth deficiency, central nervous system (CNS) dysfunction and minor facial anomalies. The incidence in the USA has been estimated to be between 0.33 and 2.2 per 1000 live births. Until the 90s, there were no objective, standardized criteria for the diagnosis of FAS. We report the case of a boy aged 5 years and 10 months who has been diagnosed as having this syndrome. The aim of this article is to review and update the criteria for the diagnosis of FAS
