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.
Authors
- Adhi Pribadi
- Aisyah Nisa
- Johanes Mose
- Akhmad Pramatirta
- Muhamad Faizal Caropeboka
Institutions
- Dr. Hasan Sadikin General Hospital (ID)
- Padjadjaran University (ID)
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