Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia

Our case emphasized the need for proper diagnosis of severe perinatal HPP to initiate life-saving ERT after delivery. Cooperation between obstetricians and clinical genetics teams is essential to avoid delayed or misdiagnosis.

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Publication Details

Journal
Case Reports in Endocrinology
Published
2025-01-01
DOI
https://doi.org/10.1155/crie/9119661
Primary Topic
Alkaline Phosphatase Research Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia

Doua Khalid Al Homyani, Shahad Khalid Al Hemaiani, Qaydah Qayed Al Harthi, Rayan Al Zahrani et al.
Case Reports in Endocrinology
Alkaline Phosphatase Research Studies
article

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia

Doua Khalid Al Homyani, Shahad Khalid Al Hemaiani, Qaydah Qayed Al Harthi, Rayan Al Zahrani, Ali Saad Al Qarni
article en

Abstract

Our case emphasized the need for proper diagnosis of severe perinatal HPP to initiate life-saving ERT after delivery. Cooperation between obstetricians and clinical genetics teams is essential to avoid delayed or misdiagnosis.

Case Reports in EndocrinologyVol. 2025(1)
Taif University (SA), Ministry of Health (AE), King Abdulaziz Hospital (SA)
Openalex Percentile: Top 57%
Alkaline Phosphatase Research Studies
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