ReviewPediatric radiology2019
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Review in Pediatric radiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Iatrogenic Pan-Craniosynostosis Due to Alkaline Phosphatase Enzyme Replacement Therapy Using Asfotase Alfa for Hypophosphatasia.Journal of plastic and reconstructive surgery · 2026Article
- In-utero cell transplantation for hypophosphatasia with gene-edited hESC-derived MSCs in a murine model.Molecular therapy. Advances · 2026Article
- Revisiting the Genetics of Hypophosphatasia.Journal of inherited metabolic disease · 2025Review
- Review
- Case Report: Suboptimal response to standard-dose asfotase alfa in perinatal hypophosphatasia indicates a need for individualized dosing.Frontiers in endocrinology · 2025Article
- Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.Human genome variation · 2024Article
- Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.Current pediatric reviews · 2024Review
- Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Review
- Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.Annals of pediatric endocrinology & metabolism · 2023Article
- Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.Frontiers in endocrinology · 2023Article
- Proposing a clinical algorithm for better diagnosis of hypophosphatasia in resource-limiting situations.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Review
- Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Genes & genomics · 2022Article
- Prenatal enzyme replacement therapy forRegenerative therapy · 2021Article
- TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism.International journal of molecular sciences · 2021Review
- Treatment of hypophosphatasia.Wiener medizinische Wochenschrift (1946) · 2020Article
- Perinatal Hypophosphatasia in a Premature Infant.AJP reports · 2020Article
- Autoinflammatory diseases in childhood, part 2: polygenic syndromes.Pediatric radiology · 2020Article
- Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review.Revista cientifica odontologica (Universidad Cientifica del Sur)Review
- Spine radiograph in dysplasias: A pictorial essay.The Indian journal of radiology & imagingArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.