Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report
Girma Geta,1 Telila Mesfin,2 Mesfin Tsegaye,2 Tufa Bobe,3 Bonsa Bikila,1 Feleke Chefik Hailu,4 Tafese Dejene5 1Madda Walabu University, Goba General Hospital, Department of Midwifery, Goba, Oromia, Ethiopia; 2Madda Walabu University, Goba General Hospital, School of Medicine, Goba, Oromia, Ethiopia;...
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Dove Medical Press
2024-02-01
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| Series: | Research and Reports in Neonatology |
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| Online Access: | https://www.dovepress.com/ethmocephaly-the-rarest-sub-type-of-holoprosencephaly-a-case-report-peer-reviewed-fulltext-article-RRN |
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| author | Geta G Mesfin T Tsegaye M Bobe T Bikila B Hailu FC Dejene T |
| author_facet | Geta G Mesfin T Tsegaye M Bobe T Bikila B Hailu FC Dejene T |
| author_sort | Geta G |
| collection | DOAJ |
| description | Girma Geta,1 Telila Mesfin,2 Mesfin Tsegaye,2 Tufa Bobe,3 Bonsa Bikila,1 Feleke Chefik Hailu,4 Tafese Dejene5 1Madda Walabu University, Goba General Hospital, Department of Midwifery, Goba, Oromia, Ethiopia; 2Madda Walabu University, Goba General Hospital, School of Medicine, Goba, Oromia, Ethiopia; 3Department of Obstetrics and Gynecology, Madda Walabu University, Goba Referral Hospital, Goba, Oromia, Ethiopia; 4Madda Walabu University, Goba General Hospital, Department of Nursing, Goba, Oromia, Ethiopia; 5Dire Dawa University, Department of Obstetrics and Gynecology, Dire Dawa, EthiopiaCorrespondence: Girma Geta, Tel +251920954580, Email girma.geta.3@gmail.comIntroduction: 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 |
| first_indexed | 2024-03-08T06:09:13Z |
| format | Article |
| id | doaj.art-1f48a736a2904dfc9c2d6d110e20b255 |
| institution | Directory Open Access Journal |
| issn | 1179-9935 |
| language | English |
| last_indexed | 2024-03-08T06:09:13Z |
| publishDate | 2024-02-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Research and Reports in Neonatology |
| spelling | doaj.art-1f48a736a2904dfc9c2d6d110e20b2552024-02-04T17:43:33ZengDove Medical PressResearch and Reports in Neonatology1179-99352024-02-01Volume 14353890168Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case ReportGeta GMesfin TTsegaye MBobe TBikila BHailu FCDejene TGirma Geta,1 Telila Mesfin,2 Mesfin Tsegaye,2 Tufa Bobe,3 Bonsa Bikila,1 Feleke Chefik Hailu,4 Tafese Dejene5 1Madda Walabu University, Goba General Hospital, Department of Midwifery, Goba, Oromia, Ethiopia; 2Madda Walabu University, Goba General Hospital, School of Medicine, Goba, Oromia, Ethiopia; 3Department of Obstetrics and Gynecology, Madda Walabu University, Goba Referral Hospital, Goba, Oromia, Ethiopia; 4Madda Walabu University, Goba General Hospital, Department of Nursing, Goba, Oromia, Ethiopia; 5Dire Dawa University, Department of Obstetrics and Gynecology, Dire Dawa, EthiopiaCorrespondence: Girma Geta, Tel +251920954580, Email girma.geta.3@gmail.comIntroduction: 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, proboscishttps://www.dovepress.com/ethmocephaly-the-rarest-sub-type-of-holoprosencephaly-a-case-report-peer-reviewed-fulltext-article-RRNethmocephalyholoprosencephalyhypotelorismproboscis |
| spellingShingle | Geta G Mesfin T Tsegaye M Bobe T Bikila B Hailu FC Dejene T Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report Research and Reports in Neonatology ethmocephaly holoprosencephaly hypotelorism proboscis |
| title | Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report |
| title_full | Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report |
| title_fullStr | Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report |
| title_full_unstemmed | Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report |
| title_short | Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report |
| title_sort | ethmocephaly the rarest sub type of holoprosencephaly a case report |
| topic | ethmocephaly holoprosencephaly hypotelorism proboscis |
| url | https://www.dovepress.com/ethmocephaly-the-rarest-sub-type-of-holoprosencephaly-a-case-report-peer-reviewed-fulltext-article-RRN |
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