Sirenomelia with Oesophageal Atresia: A Rare Association

Sathe, Pragati

doi:10.7860/jcdr/2014/8045.4044

Cited by 5 publications

(4 citation statements)

References 2 publications

(5 reference statements)

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“…Sirenomelia is also known by synonyms including 'Mermaid syndrome, Sympodus, Sympus dipus, Caudal regression syndrome'. 2 Stocker and Heifetz classified Sirenomelia into seven types. Type I is the mildest form while type VII is the most severe form, with single lower limb bone without identifiable legs or feet.…”

Section: Discussionmentioning

confidence: 99%

“…Sirenomelia can be a part of Caudal regression sequence, Sirenomelia sequence and VATER association. 2 Single umbilical artery (SUA) and renal anomalies are almost invariably present while gastrointestinal anomalies are variable and include a blind ending colon, rectal atresia and imperforate anus. Genital malformations mainly affect the external genitalia, which are either absent or represented by an indistinct tag of tissue, while the gonads are usually normal.…”

Section: Discussionmentioning

confidence: 99%

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Sirenomelia with VACTERL association-a rare anomaly

Tanigasalam

Gowda

Plakkal

et al. 2018

Pediatrics & Neonatology

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Sirenomelia with VACTERL association-a rare anomaly

Tanigasalam

Gowda

Plakkal

et al. 2018

Pediatrics & Neonatology

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“…An association between caudal regression syndrome, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), and sirenomelia has been reported [20–22]. Single umbilical artery and renal anomalies are almost invariably present, whereas gastrointestinal anomalies are variable and include a blind-ending colon, rectal atresia, and anal imperforation.…”

Section: Discussionmentioning

confidence: 99%

Sirenomelia associated with an anterior abdominal wall defect: a case report

Kavunga¹,

Bunduki

Mumbere

et al. 2019

J Med Case Reports

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Background: Sirenomelia is a rare and fatal congenital defect. The rarity of this case and its association with abdominal total wall defect drove us to report this case. Case presentation: We report a rare case of sirenomelia characterized by lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis with a rudimentary tail, and genitourinary and anorectal atresia. Coexistent anterior abdominal wall defect in this case highlights its fatalness because of complications associated with the malformation. Conclusions: Sirenomelia syndrome has seldom been reported. The present case highlights the rare atypical association of sirenomelia with anterior abdominal wall defect. Because the investigations were done in a lowresource setting, the etiology regarding this case remains unclear.

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“…The association between caudal regression syndrome, VACTERL association and sirenomelia has been reported [24–27]. Single umbilical artery and renal anomalies are almost invariably present while gastrointestinal anomalies are variable and include a blind ending colon, rectal atresia, and imperforate anus.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis

Sugiura

Sato

Nakanami

et al. 2018

Case Reports in Obstetrics and Gynecology

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Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming the in utero imaging findings. Awareness of these rare associations will help avoid misdiagnoses and facilitate prenatal counselling. This case highlights the importance of a thorough ultrasound examination.

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Sirenomelia with Oesophageal Atresia: A Rare Association

Cited by 5 publications

References 2 publications

Sirenomelia with VACTERL association-a rare anomaly

Sirenomelia with VACTERL association-a rare anomaly

Sirenomelia associated with an anterior abdominal wall defect: a case report

Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis

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