Наследственная генетика: текущие исследования

Абстрактный

Tibial Agenesis and Gollop-Wolfgang Complex in Three Siblings Born to an Epileptic Woman Treated with Carbamazepine: Teratogenicity

Nasir Muzaffar

The term “limb deficiency” incorporates absence and/or size reduction of any of the 120 human limb bones, with around 205 identified nosologic entities. Of these, the Gollop- Wolfgang Complex (GWC) is a rare abnormality comprising absence of tibia and ipsilateral forked femur with ectrodactyly. There is scarcity of literature implicating antiepileptic drugs in the etiology of GWC but the teratogenecity of antiepileptics especially valproate is well documented. The management of epilepsy during pregnancy requires a balance between control, the risks involved in uncontrolled seizures and the teratogenecity of antiepileptic drugs. This study presents three siblings with GWC and tibial agenesis whose epileptic mother had been on treatment with carbamazepine for 10 years. To the author’s knowledge, this is the first time that carbamazepine has been implicated in causation of GWC/tibial agenesis