A case of cebocephaly associated with abnormal genitalia

SummaryHoloprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly, and cebocephaly. Cebocephaly is a very rare congenital anomaly combining alobar holoprosencephaly, ocular hypotelorism, and a proboscis-like nose with single nostril. There is only one cebocephaly case with abnormal genitalia. We report to our knowledge the second case of cebocephaly associated with abnormal genitalia in the relevant literature.