Neonatal hypophosphatasia: a case report of a rare genetic disorder
Our case highlights the significance of astute clinical observation, imaging studies, and biochemical assessments in unveiling this rare disorder. Early identification through a systematic approach allows for timely initiation of treatment, potentially ameliorating outcomes. By elucidating the disease's symptoms, this case contributes to a better understanding of its natural history, emphasizing the imperative for early intervention to enhance patient prognosis.
Authors
- Navin Chohan
- Wasif Ilyas Vohra
- Adnan Mirza
Institutions
- Aga Khan University Hospital (PK)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1186/s12887-025-05876-2
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00