Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report

摘要

BackgroundThe term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors. It is commonly associated with midfacial defects and has a spectrum of presentations. There are four types: alobar, semilobar, lobar, and variant. Holoprosencephaly is relatively rare. The overall prevalence in a multicenter study was 1 in 13,000 to 18,000 live births. However, the presentation of holoprosencephaly with cebocephaly, micropenis, agenesis of middle phalanges of the fifth finger, and postaxial polydactyly in association with early onset preeclampsia is extremely rare. We report a case with a constellation of the above congenital anomalies.