Santiago Aristizábal-Ortiz, Alba Esquivel-Villabona, Yenny Constanza Bernal-Cifuentes
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Prenatal ultrasound diagnostic approach to Omenn syndrome: case report
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.
期刊介绍：
The Revista Colombiana de Obstetricia y Ginecología was founded in January 1949. It is the Federación Colombiana de Asociaciones de Obstetricia y Ginecología"s official periodic publication (formerly known as the Sociedad Colombiana de Obstetricia y Ginecología). It is published quarterly and the following abbreviation should be used when citing the journal: Rev. Colomb. Obstet. Ginecol. The publication is authorized by Mingobierno resolution 218/1950.
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