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

Abstract Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently.
PMID
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Authors

Mayor MeshTerms

Ultrasonography, Prenatal

Keywords
Journal Title medicine
Publication Year Start




PMID- 29390297
OWN - NLM
STAT- MEDLINE
DCOM- 20180212
LR  - 20180212
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 50
DP  - 2017 Dec
TI  - Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis
      totalis: A case report study.
PG  - e9020
LID - 10.1097/MD.0000000000009020 [doi]
AB  - 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.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Theofanakis, Charalampos
AU  - Theofanakis C
FAU - Theodora, Marianna
AU  - Theodora M
FAU - Sindos, Michail
AU  - Sindos M
FAU - Daskalakis, George
AU  - Daskalakis G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Abortion, Eugenic
MH  - Anencephaly/*diagnostic imaging
MH  - Ectromelia/*diagnostic imaging
MH  - Female
MH  - Humans
MH  - Neural Tube Defects/*diagnostic imaging
MH  - Pregnancy
MH  - *Ultrasonography, Prenatal
MH  - Young Adult
EDAT- 2018/02/03 06:00
MHDA- 2018/02/13 06:00
CRDT- 2018/02/03 06:00
PHST- 2018/02/03 06:00 [entrez]
PHST- 2018/02/03 06:00 [pubmed]
PHST- 2018/02/13 06:00 [medline]
AID - 10.1097/MD.0000000000009020 [doi]
AID - 00005792-201712150-00047 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Dec;96(50):e9020. doi: 10.1097/MD.0000000000009020.