RESUMO
Beals syndrome, also known as Beals-Hecht syndrome or congenital contractural arachnodactyly, is a rare, autosomal dominant connective tissue disorder. It is characterized by crumpled ears, arachnodactyly, congenital contractures and scoliosis. A male infant of 37+5 weeks of gestation, and with birth weight of 3170 grams, had features of a long and narrow face, bilateral crumpled inferior helix, prominent antihelix of the ears, bilateral arachnodactyly, clenched position of the hands and flexion contractures of the elbows and knees. The infant had tachypnea and chest retractions shortly after birth, and was diagnosed with transient tachypnea of newborn with pneumothorax. He was subsequently treated with positive pressure ventilation and chest tube insertion. Chromosomal karyotype analysis was normal and screening for Marfan syndrome was negative. Echocardiographic findings were unremarkable. Cranial ultrasonography showed a left lateral ventricle dilatation of 0.5 cm and increase up to 1.2 cm on follow up. Brain MRI showed a progression of dilatation of the left ventricle, and a ventriculo-peritoneal shunt was done at 3 months of age. We present a case of a newborn male with Beals syndrome, accompanied with ventricular dilatation and progression to hydrocephalus that has not been previously reported.
Assuntos
Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Aracnodactilia , Peso ao Nascer , Encéfalo , Tubos Torácicos , Tecido Conjuntivo , Contratura , Dilatação , Orelha , Cotovelo , Seguimentos , Mãos , Ventrículos do Coração , Hidrocefalia , Cariótipo , Joelho , Ventrículos Laterais , Síndrome de Marfan , Programas de Rastreamento , Parto , Pneumotórax , Respiração com Pressão Positiva , Escoliose , Taquipneia , Tórax , Taquipneia Transitória do Recém-Nascido , Derivação VentriculoperitonealRESUMO
No abstract available.