Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study

Abstract

Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently.

Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation.

Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy.

Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy.

Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios.

Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field.