Open AccessPrenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis
Author(s) -
Charalampos Theofanakis,
Marianna Theodora,
Michael Sindos,
G. Daskalakis
Publication year - 2017
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000009020
Subject(s) - medicine , anencephaly , oligohydramnios , prenatal diagnosis , obstetrics , renal agenesis , pregnancy , prenatal ultrasound , gestation , pediatrics , fetus , kidney , genetics , biology
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.