Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Abstract

Introduction

Holoprosencephaly results from incomplete cleavage of the forebrain during embryogenesis. Clinical phenotypes vary from mild to severe. We present a case of a liveborn infant with the most severe form of holoprosencephaly, ethmocephaly, which in most cases is incompatible with survival beyond the immediate newborn period.

Case

A 2000 gram, male infant was born to a 28-year-old gravida who was human immunodeficiency virus (HIV)-positive and receiving antiretroviral therapy. At birth the infant was lethargic and had poor respiratory effort with central and peripheral cyanosis. On physical examination, we found ocular hypotelorism, a 6 cm midline proboscis located above the eyes and absent nasal structures.

Conclusion

Early detection by the prenatal ultrasound examination is important pregnancy and birth planning and to anticipate expected outcomes. Further study is indicated to understand the contribution of HIV infection and its treatment to the development and severity of holoprosencephaly.

Keywords:

• ethmocephaly
• holoprosencephaly
• hypotelorism
• proboscis

Availability of Supporting Data

Data on the case clinical information informed consent forms and images are available for review from the corresponding author upon request.

Ethical Approval

No ethical approval is required for this case report.

Consent Form

Written informed consent was obtained from the parents of the case for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Disclosure

The authors declare that there are no conflicts of interest in this work.