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Case Report

Sirenomelia Apus with Cystic Dysplastic Kidney A Rare Polymalformative Syndrome

Rajalakshmi.B.R , Rajalakshmi BR1 , Sapna Patel MC2 , Indrakshi Basak3

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Indian Journal of Forensic Medicine and Pathology 14(1):p 67-70, . | DOI: http://dx.doi.org/10.21088/ijfmp.0974.3383.14121.9
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Rajalakshmi BR, Sapna Patel M C, Indrakshi Basak/Sirenomelia Apuswith Cystic Dysplastic Kidney-A Rare Polymalformative Syndrome/Indian J. Forensic Med Pathol. 2021;14(1):67-70.

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Abstract

Sirenomelia is a lethal form of caudal regression anomaly which shows fusion of the lower limbs with a spectrum of anomalies affecting musculoskeletal, genitourinary and gastrointestinal systems.It resembles a mermaid in Roman mythology, with upper body of a human and the lower half resembling the tail of a fish.We report a case of anomalous fetus diagnosed at 18 weeks of gestation born to a non-diabetic mother.External phenotype showed fused lower limbs, no discernible external genitalia, imperforate anus,hypodactyly, ectopic cystic dysplastic kidneys and Potter’s syndrome with single umbilical artery. Maternal diabetes has been associated with caudal regression syndrome and sirenomelia. Here we report a case of Sirenomelia with Potter’s syndrome and cystic renal dysplasia not associated with gestational diabetes mellitus. The presence of cystic renal dysplasia in our case would further endorse the mesodermal defect in caudal regression syndrome. The possible use of genetic analysis will help to analyse the underlying molecular mechanisms of caudal regression syndrome associated with cystic renal dysplasia. Keywords: Sirenomelia; Cystic Renal Dysplasia; Potter’ Syndrome; Hypodactyly.

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  • Rajalakshmi.B.R
    ,
  • Rajalakshmi BR1
    ,
  • Sapna Patel MC2
    ,
  • Indrakshi Basak3
    ,
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Rajalakshmi BR, Sapna Patel M C, Indrakshi Basak/Sirenomelia Apuswith Cystic Dysplastic Kidney-A Rare Polymalformative Syndrome/Indian J. Forensic Med Pathol. 2021;14(1):67-70.

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DOI: http://dx.doi.org/10.21088/ijfmp.0974.3383.14121.9
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