A Case of Ethmocephaly in a Clomiphene Citrate Induced Pregnancy: A Case Report and Literature Review

Ethmocephaly is the most severe form of holoprosencephaly, which results from incomplete cleavage of the forebrain during embryogenesis. It is incompatible with life. Here we reported a case of ethmocephaly in a clomiphene citrate induced pregnancy in a 32-year-old, gravida 6 woman, at a gestational age of 23 weeks. Upon ultrasound scanning, there were brain abnormalities, like a single dilated ventricle, absent falx cerebri, and facial profile abnormalities like proboscis. After delivery, on physical examination of the newborn, we found ocular hypotelorism, a 5 cm midline proboscis located above the eyes, and absent nasal structures. The patient had used clomiphene for two cycles prior to conception, with no other notable medical history. In conclusion, ethmocephaly is a severe and typically fatal condition requiring early prenatal detection for better planning. While there is no clear link between clomiphene use and holoprosencephaly, further research is needed to explore any potential risks and guide clinical practice.