Memorias del Instituto de Investigaciones en Ciencias de la Salud
versão On-line ISSN 1812-9528
ABSTRACT Skeletal dysplasias are pathologies which present a general alteration of the osseus tissue and they constitute one of the most common causes of severe growth deficiency. Some of them are more common than others but they all have a high frequency of appearance. According to the affected osseus portion, they may be rhizomelic (proximal portion: arms and thighs), mesomelic (media portion: forearms and legs), acromelic (distal portion: hands and feet) or a combination of the different types. The differential diagnosis, prognosis, possibilities of prenatal diagnosis and genetic counselling of four types of skeletal dysplasias are presented. The four patients, three boys and a girl, were seen at the Genetics Department of the IICS and their ages ranged from 3 days to 21 months. The differential diagnosis was based on clinical features, radiographic studies and genealogical tree. We identified one case each of diastrophic dysplasia, hypochondroplasia, diastrophic and achondroplasia. The mother of this last case was affected by the same pathology. We would like to highlight the importance of an early diagnosis and differentiation in the prognosis and determination of the etiology, considering that some osseus dysplasias are lethal and that hereditary forms have a repetition risk.
Palavras-chave : Skeletal dysplasias; Growth deficiency; Chondrodysplasias; Chondrodistrophies.