Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Abstract

Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It is possible to make a prenatal diagnosis of these dysplasias in 85% of cases, with a specific diagnosis in about half of them. It is presented a case of a fetus of 22.2 weeks in which occurs ultrasonographic findings were found compatible with a lethal osteochondrodysplasia. With anatopathologics findings and, above all, radiological, we could identify the specific type of skeletal dysplasia present in the fetus: short rib and polydactyly syndrome type I or Saldino-Noonan syndrome of low incidence characterized by shortening of limbs, polydactyly and narrow thorax with short ribs, which produces death from respiratory failure as a result of pulmonary hypoplasia, in the first hours of life.

Keywords

• diagnóstico prenatal
• enfermedades del desarrollo óseo
• osteocondrodisplasias
• síndrome de costilla pequeña y polidactilia