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Journals / Jinekoloji Obstetrik Pediatri ve Pediatrik Cerrahi Dergisi / 2011 / Cilt: 3 - Sayı: 2

A Case of Alobar Holoprosencephaly Associated with Cebocephaly

Sebosefali ile İlişkili Alobar Holoprozensefali Olgusu

Ümran ÇETİNÇELİK
Sinan Hasan USLU
Pages
90–94
Publication Date
2022-10-18
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Herein presented alobar holoprocencephaly case associated with cebocephaly was not diagnosed antenatally despite fetal ultrasonographic examination, emphasize that special education is needed in our country

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objective: Alobar holoprosencephaly is rarely seen and characterised by severe median malformations of the brain and face due to incomplete cleavage and morphogenesis of the prosencephalon.
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Key Findings & Data:The aim of this case presentation is to demonstrate the undiagnosed newborn with alobar holoprosencephaly despite the early antenatal monitoring during the first two trimester and its discussion within the current context of the literature on this anomaly.
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Conclusion & Impact:Conclusion: Herein presented alobar holoprocencephaly case associated with cebocephaly was not diagnosed antenatally despite fetal ultrasonographic examination, emphasize that special education is needed in our country
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Alobar holoprosencephaly is rarely seen and characterised by severe median malformations of the brain and face due to incomplete cleavage and morphogenesis of the prosencephalon. Alobar holoprosencephaly can be diagnosed with ultrasonography at the early antenatal period. The aim of this case presentation is to demonstrate the undiagnosed newborn with alobar holoprosencephaly despite the early antenatal monitoring during the first two trimester and its discussion within the current context of the literature on this anomaly. Case: At postnatal 2 hours, full term, female infant was admitted to the neonatal intensive care unit because of major facial anomaly. A 21-year-old mother had a gestational diabetes, and antenatal care were carried out during the first two trimester. Physical examination of the head exam revealed cebocephaly (hypotelorism, single-nostril nose) and alobar holoprosencephaly was diagnosed with magnetic resonance findings. Conclusion: Herein presented alobar holoprocencephaly case associated with cebocephaly was not diagnosed antenatally despite fetal ultrasonographic examination, emphasize that special education is needed in our country

Özet

Amaç: Alobar holoprozensefali, prozensefalonun inkomplet bölünme ve morfogenezinden kaynaklanan ağır yüz defektleri ile karakterize nadir görülen bir beyin malformasyonudur. Gebeliğin erken döneminde ultrasonografik olarak tespit edilebilmektedir. Bu olguyu sunmaktaki amacımız annenin gebeliğinin ilk iki trimesterinde antenatal izlemi olan fakat prenatal tanı konulamayan alobar holoprozensefalili yenido- ğanı literatür bilgileri eşliğinde tartışmaktır. Olgu: Zamanında doğan kız bebek ağır yüz anomalileri nedeniyle yenidoğan yoğun bakım ünitesine kabul edildi. Yirmi bir yaşındaki annenin gestasyonel diyabeti vardı ve ilk 2 trimesterde antenatal izlemi yapılmıştı. Bebeğin baş muayenesinde sebosefali (hypotelorizm, tek burun deliği) saptandı ve magnetik rezonans incelemesi ile alobar holoprozensefali tanısı kondu. Sonuç: Fetal ultrasonografi ile antenatal izlemine rağmen tanısı konulamayan ve canlı olarak doğurtulan sebosefalinin eşlik ettiği alobar holoprozensefali tanılı olgumuz, ülkemizde bu konuda özel eğitim alınmasının gerekliliğini göstermektedir.

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Cite This Article

ÇETİNÇELİK, Ü., USLU, S. H. (2022). A Case of Alobar Holoprosencephaly Associated with Cebocephaly. Jinekoloji Obstetrik Pediatri ve Pediatrik Cerrahi Dergisi, Cilt: 3 - Sayı: 2, 90–94. https://ajindex.com/articles/558570

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