Syndromes with Lethal or Sublethal Evolution

There are some bone dysplasias characterized by dwarfism that is not always severe and by abnormalities in other organs and apparatuses. These syndromes are associated with a poor prognosis in the first months or years of life. They are transmitted as an autosomal recessive trait. If ultrasound abnormalities are detected, the pregnant woman must be referred for genetic counselling and a molecular karyotype study to name the malformation. The pregnant must be informed of the prognosis, and in subsequent pregnancies genetic diagnosis by chorionic villus sampling must be offered due to the high risk of recurrence.