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Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
Joint Authors
Sato, Yutaka
Zarei, Kasra
Bernat, John A.
Segal, Rachel
Bhoojhawon, Guru
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-11-24
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia.
We present a case of infantile hypophosphatasia with multiple unexplained fractures but otherwise normal radiographs in the setting of biochemical and genetic evidence of hypophosphatasia.
Standard screening tests for hypophosphatasia include serum alkaline phosphatase level and genetic testing.
Despite the presented case’s positive biochemical and genetic testing, the case did not have any other radiologic finding suggesting infantile hypophosphatasia, such as severe bone mineralization deficits and rickets.
While patients with hypophosphatasia can have increased bone fragility, this has been reported in the context of radiologic abnormalities of the skeleton.
Thus, this case is potentially the first reported infantile hypophosphatasia case presenting with no findings of rickets on radiographs, raising concern that the fractures and especially the radius head dislocation might be due to physical abuse.
American Psychological Association (APA)
Zarei, Kasra& Bernat, John A.& Sato, Yutaka& Segal, Rachel& Bhoojhawon, Guru. 2020. Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150616
Modern Language Association (MLA)
Zarei, Kasra…[et al.]. Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings. Case Reports in Pediatrics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1150616
American Medical Association (AMA)
Zarei, Kasra& Bernat, John A.& Sato, Yutaka& Segal, Rachel& Bhoojhawon, Guru. Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150616
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150616