A Rare Variant of Holoprosencephaly: Ethmocephaly with Inferior Proboscis and Amelia

Abstract

Ethmocephaly is a rare phenotypic variant of holoprosencephaly, characterized by the failure of embryonic prosencephalon to properly divide the orbits of the eye into two cavities with grossly incomplete morphogenesis of fore brain. The severity has a marked variability and ranges from hypotelorism to cyclopia with craniofacial dysmorphism, such as microcephaly with a single central incisor. Reports of this anomaly are few and because of the rarity even among Holoprosencephaly. We report a case of Ethmocephay with inferior probocis from 32 year old lady G2P1L1 with previous history of normal vaginal delivery who presented to us 40 weeks of pregnancy with no fetal movements. She delivered stillbirth: a female fetus with multiple defects and diagnosed as a case of holoprosencephaly with ethmocephaly. Normally the ethamocephaly with superior probocis is usual presentation. But this stillborn fetus cyclop has inferior proboscis, ill-developed face, amelia and foot abnormlities. This case is presented because of atypical presentation of ethmocephaly like, amelia, absent of both ears, mouth opening which are not mentioned in any previous literatures.

Keywords: Ethmocephaly, holoprosencephaly, inferior proboscis, amelia

Cite this Article

Adil Asghar, Vinod Kumar, Monika Srivastava et al. A Rare Variant of Holoprosencephaly: Ethmocephaly with Inferior Proboscis and Amelia. Research & Reviews: Journal of Medical Science and Technology. 2016; 5(3): 1–4p.