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

Authors

  • Adil Asghar Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Vinod Kumar Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Monika Srivastava Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Aparna Dixit Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Mamta Rani Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Atif Atiq Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
  • Nand Kishore Gupta Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India

Keywords:

thmocephaly, Holoprosencephaly, Inferior proboscis, 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.


 

Author Biographies

  • Monika Srivastava, Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
    lecturer of anatomy upums
  • Mamta Rani, Department of Anatomy, UPUMS Saifai, Etawah-206130, U.P., India
    demonstrator upums saifai

Downloads

Published

2016-12-20

Issue

Vol. 5 No. 3 (2016)

Section

Research/Review Articles

License

Declaration and Copyright Transfer Form

(to be completed by authors)

I/ We, the undersigned author(s) of the submitted manuscript, hereby declare, that the above manuscript which is submitted for publication in the STM Journals(s), is notpublished already in part or whole (except in the form of abstract) in any journal or magazine for private or public circulation, and, is not under consideration of publication elsewhere.

  • I/We will not withdraw the manuscript after 1 week of submission as I have read the Author Guidelines and will adhere to the guidelines.
  • I/We Author(s ) have niether given nor will give this manuscript elsewhere for publishing after submitting in STM Journal(s).
  • I/ We have read the original version of the manuscript and am/ are responsible for the thought contents embodied in it. The work dealt in the manuscript is my/ our own, and my/ our individual contribution to this work is significant enough to qualify for authorship.
  • I/We also agree to the authorship of the article in the following order:

Author’s name

 

1. ________________

2. ________________

3. ________________

_______________

We  Author(s) tick this box and would request you to consider it as our signature as we agree to the terms of this Copyright Notice, which will apply to this submission if and when it is published by this journal.