Keywords
osteochondrodysplasias
congenital abnormalities
pregnancy
prenatal diagnosis
How to Cite
Abstract
Thanatophoric dysplasia is an unusual and sporadic congenital defect whose outcome is intrauterine death or a few days
after birth. Its appearance has been described in 0.2-0.5 cases of every 10,000 live births and depends on the mutation of
the fibroblast growth factor receptor-3. It exhibits two clinical presentations, of these, the so-called type II is less frequent
and is characterized by the finding of a cloverleaf skull and micromelia with straight femurs. The following is the case of a
young multiparous pregnant woman with a finding in her first ultrasound of fetus pregnancy with general shortening of
the limbs and decreased general ossification, suggestive of thanatophoric dysplasia type II, which resulted in the voluntary
termination of pregnancy. Early diagnosis in pregnancy is important in order to guide medical practice based on the poor
prognosis of suffering from this pathology.
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