Abstract

ESPINEL-PORRAS, Julieth Bibiana  and  CACERES-DELGADO, Laura Camila. Thanatophoric dysplasia type 2, an unusual congenital disease - Case Report. Medicas UIS [online]. 2022, vol.35, n.2, e403.  Epub Dec 03, 2022. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v35n2-2022007.

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.

Keywords : Thanatophoric Dysplasia; Osteochondrodysplasias; Congenital Abnormalities; Pregnancy; Prenatal Diagnosis.

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