Prenatal diagnosis of Caudal Regression Syndrome : a case report
Background
Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors.
Case presentation
We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis.
Conclusion
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.
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Complete Metadata
| @type | dcat:Dataset |
|---|---|
| accessLevel | public |
| bureauCode |
[ "009:25" ] |
| contactPoint |
{ "fn": "NIH", "@type": "vcard:Contact", "hasEmail": "mailto:info@nih.gov" } |
| description | Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination. |
| distribution |
[ { "@type": "dcat:Distribution", "title": "Official Government Data Source", "mediaType": "text/html", "description": "Visit the original government dataset for complete information, documentation, and data access.", "downloadURL": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC64494/" } ] |
| identifier | https://healthdata.gov/api/views/8g39-zcm4 |
| issued | 2025-07-14 |
| keyword |
[ "caudal-regression-syndrome", "congenital-malformations", "nih", "prenatal-diagnosis", "ultrasonography" ] |
| landingPage | https://healthdata.gov/d/8g39-zcm4 |
| modified | 2025-09-06 |
| programCode |
[ "009:033" ] |
| publisher |
{ "name": "National Institutes of Health", "@type": "org:Organization" } |
| theme |
[ "NIH" ] |
| title | Prenatal diagnosis of Caudal Regression Syndrome : a case report |
