Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center

This case series demonstrates the phenotypic and chromosomal variability within alobar HPE and underscores the diagnostic value of detailed ultrasonography combined with genetic analysis. Late detection in the third trimester limited reproductive options and highlights the importance of improved anomaly screening pathways. Early diagnosis remains crucial for comprehensive parental counselling and perinatal planning.

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Publication Details

Journal
International Medical Case Reports Journal
Published
2026-02-01
DOI
https://doi.org/10.2147/imcrj.s569641
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center

Adhi Pribadi, Aisyah Nisa, Johanes Mose, Akhmad Pramatirta et al.
International Medical Case Reports Journal
Hedgehog Signaling Pathway Studies
article

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center

Adhi Pribadi, Aisyah Nisa, Johanes Mose, Akhmad Pramatirta, Muhamad Faizal Caropeboka
article en

Abstract

This case series demonstrates the phenotypic and chromosomal variability within alobar HPE and underscores the diagnostic value of detailed ultrasonography combined with genetic analysis. Late detection in the third trimester limited reproductive options and highlights the importance of improved anomaly screening pathways. Early diagnosis remains crucial for comprehensive parental counselling and perinatal planning.

International Medical Case Reports JournalVol. Volume 19
Dr. Hasan Sadikin General Hospital (ID), Padjadjaran University (ID)
Gender equality
Openalex Percentile: Top 61%
Hedgehog Signaling Pathway Studies
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