ArticleUltrasonography (Seoul, Korea)2016
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography.
Article in Ultrasonography (Seoul, Korea), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 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
- Hypophosphatasia: from birth to adulthood.Archives of endocrinology and metabolism · 2023Review
- The Clinical Picture of Patients Suffering from Hypophosphatasia-A Rare Metabolic Disease of Many Faces.Diagnostics (Basel, Switzerland) · 2022Article
- Prenatal enzyme replacement therapy forRegenerative therapy · 2021Article
- A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation.Archives of endocrinology and metabolism · 2021Article
- Update on the management of hypophosphatasia.Therapeutic advances in musculoskeletal disease · 2019Review
- Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatric radiology · 2019Review
- Normal development of sacrococcygeal centrum ossification centers in the fetal spine: a postmortem magnetic resonance imaging study.Neuroradiology · 2018Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.
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