Related articles: Focomelia
Definition
The phocomelia is a congenital malformation of the skeleton, characterized by the reduced or failure to develop the proximal segment of one or more limbs.
Usually, the hands and feet have an almost normal conformation, but seem to be inserted respectively at the level of the shoulders and hips (similar to the limbs of seals).
The phocomelia is found rather rarely and, in general, recognizes the same causes that determine other malformative processes; this anomaly is therefore a consequence of an abnormal development of the embryo during gestation.
The factors that increase the likelihood of finding this malformation include the family predisposition (it can occur in families in which the same or similar anomalies have already occurred, such as polydactyly) and the use of particular drugs (eg estrogens and synthetic progestogens), without the express authorization of the doctor, during the first weeks of gestation. In this regard, the ratio of phocomelia to thalidomide intake during pregnancy is known.
During gestation, other risk factors are infectious diseases (such as toxoplasmosis and rubella), exposure to ionizing radiation, intoxication and abdominal trauma.
Possible Causes * of Phocomelia
- Rubella
- Toxoplasmosis
