Genetically determined long bones deficiency – Roberts syndrome, a case report

Roberts syndrome, a genetically determined long bones deficiency inherited in an autosomal recessive way, was first described as phocomelia with cleft palate in 1919. Because of the similarity in clinical picture, Roberts syndrome is also called pseudo-thalidomide syndrome. In 40% of cases the consanguinity of the parents has been stated. The aim of the paper is to present clinical and radiological pictures of Roberts syndrome in a newborn child. The propositus is a newborn girl of healthy, non-related parents, from first pregnancy of physiological duration, first delivery, on time. Pedigree analysis didn't show…