Sonographic Detection of Holoprosencephaly With Cyclopia and Proboscis

Abstract

The incidence of holoprosencephaly is about 1 in 10,000 to 20,000 births. There are three major forms: alobar, semilobar, and lobar. The alobar form with cyclopia is very rare. The author describes a transabdominal sonographic diagnosis of an alobar form of holoprosencephaly at 20 weeks’ gestational age. The fetus presented with cyclopia, proboscis, absence of ears and nose, polydactyly, hydrocephalus, macrocephaly, and polyhydramnios. After counseling, termination of pregnancy was performed. Two years later, a subsequent pregnancy was normal.

Cyclopia with proboscis: A rare congenital anomaly

“…A cyclopia with proboscis is a rare form of HPE with few more cases reported worldwide. 4 , 5 , 6 , 7 To our knowledge, this is the first case reported from our institution. Moreover, no case of cyclopia with proboscis has been documented from Nepal to date.…”

Alobar Holoprosencephaly With Cebocephaly

“…These may include ocular hypotelorism (decrease distance between eyes), cyclopia (single, midline, fused eye exists in a single orbit below a proboscis), proboscis (nose-like appendage), ethmocephaly (proboscis separating ocular hypotelorism), cebocephaly (ocular hypotelorism with a single nostril nose), single nostril, or cleft lip and/or palate. 9 With recent advancements and improvements of highresolution sonography, early diagnosis of HPE is possible. Excellent sonographic images help to predict the severity of craniomaxillofacial anomalies as well as cephalic anomalies.…”

“…HPE can be recessive or autosomal. 9 Depending on which classification an infant is diagnosed with, HPE may be fatal or debilitating. In a study performed by Stashinko et al 14 involving 104 children, approximately 50% of the children with alobar HPE died within five months, and of those surviving, approximately 30% lived beyond one year; however, none of the surviving children could sit independently or speak.…”

“…These may include ocular hypotelorism (decrease distance between eyes), cyclopia (single, midline, fused eye exists in a single orbit below a proboscis), proboscis (nose-like appendage), ethmocephaly (proboscis separating ocular hypotelorism), cebocephaly (ocular hypotelorism with a single nostril nose), single nostril, or cleft lip and/or palate. 9…”