ArticleRevista colombiana de obstetricia y ginecologia2021
Prenatal ultrasound diagnostic approach to Omenn syndrome: case report
Article in Revista colombiana de obstetricia y ginecologia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report.Clinical case reports · 2024Article
- Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.Frontiers in pediatrics · 2022Review
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Authors and funding
3 authors.
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Abstract
Objective: To report the case of a pregnant woman with ultrasound diagnosis of altered fetal tegumental system and postnatal diagnosis of Omenn syndrome. Case presentation: A 27-year-old patient who presented at 31 weeks of gestation with prenatal ultrasound evidence of a fetus with significant scalp edema, echogenic amniotic fluid and scaly abdominal skin, with ichtyosis variant impression on diagnostic ultrasound. The baby was born with congenital erythroderma complicated with skin infection, and later developed septic shock and died. The genetic and pathologic workup led to the conclusion of Omenn syndrome. Conclusion: Omenn syndrome must be considered as part of the differential diagnoses when prenatal ultrasound shows findings of altered tegument system. Studies are required to assess the accuracy of ultrasound for prenatal diagnosis of erythroderma.
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