Abstract

FUENTES Q, Francisco et al. Displasias esqueléticas: Reporte de un caso y revisión de la literatura. Rev. chil. obstet. ginecol. [online]. 2018, vol.83, n.1, pp.80-85. ISSN 0048-766X.  http://dx.doi.org/10.4067/s0717-75262018000100080.

Skeletal dysplasias are a heterogeneous group of conditions that primarily affect the formation and growth of bones and cartilage, characterized by a generalized shortening of long bones. These are pathologies of low prevalence, which can be accurately diagnosed by first and second trimester ultrasonography. The importance of this pathology lies in that it has a lethality close to 50%. The most common lethal skeletal dysplasia is tanophilic dysplasia, which is characterized by macrocephaly with a narrow cranial base, narrow chest, flat vertebral bodies, generalized micromelia, absence of fractures, ventriculomegaly, polyhydroamnios and normal bone mineralization. Because the presentation of the tanophoretic dysplasia is due to an autosomal dominant mutation of novo non-germinal, the risk of recurrence is not greater than that of the general population. Given its high lethality does not happen to future generations.

Keywords : Skeletal dysplasia; ultrasonography; tanophoretic dysplasia.

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