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Medicine (Baltimore). 2017 Dec;96(50):e9020. doi: 10.1097/MD.0000000000009020.

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.

PMID:
29390297
PMCID:
PMC5815709
DOI:
10.1097/MD.0000000000009020
[Indexed for MEDLINE]
Free PMC Article

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