Which fetal malformations can occur in cases of Thrombocytopenia Absent Radius?

Thrombocytopenia Absent Radius (TAR) syndrome is characterized by congenital anomalies, primarily involving absence of the radius bone in the forearm and significant thrombocytopenia (low platelet count). However, this condition is also associated with a range of other malformations beyond the skeletal abnormalities.

In particular, individuals with TAR syndrome can present with various skeletal malformations such as hand and limb anomalies, as well as genitourinary (GU) abnormalities. These GU malformations may include issues such as undescended testes or renal dysgenesis. The association of both skeletal and genitourinary abnormalities is well-documented, making the correct choice reflect the comprehensive impact of TAR syndrome on fetal development.

This understanding becomes vital for early diagnosis and management strategies in cases where TAR syndrome is suspected. The recognition of potential additional anomalies underscores the importance of thorough ultrasonographic evaluation and planning for multidisciplinary care, both during pregnancy and after delivery.