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

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.