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Case #10041 - Sirenomelia apus and situs inversus

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Sirenomelia Sirenomelia with anal imperforation, genital agenesis and vesico-urethral (...) Sirenomelia Unique obstructive right kidney with left renal agenesis Unique obstructive right kidney with left renal agenesis Dextrocardia Dextrocardia Dextrocardia
Sirenomelia and heterotaxy, Sirenomelia and situs anomaly

Malformative association

- sirenomelia

  • femoral fusion

- situs inversus totalis

- unilateral renal agenesis

- bladder agenesis

- anorectal agenesis

  • blind-ending colon

- external genitalia agenesis

- aqueduct of Sylvius agenesis

  • hydrocephaly
    • ventricular dilatation

- vertebral malformations

  • sacral agenesis
  • dorsolombar rachischisis

- iliac anomalies

Candidate genes

- PTEN
- KIF3A (MIM.604683)

See also

- caudal regression syndrome
- VATER association with hydrocephaly (MIM.276950) with PTEN germline mutations(MIM.601728)

References

- Hou JW, Wang TR. Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. J Med Genet. 1996 Oct;33(10):879-81. PMID: 8933346

- Langer B, Stoll C, Nicolau R, Gasser B, Schlaeder G. Sirenomelia and situs inversus: case report and review of the literature. Fetal Diagn Ther. 1996 Jan-Feb;11(1):79-84. PMID: 8719727