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Case #10041 - Sirenomelia apus and situs inversus

Friday 27 October 2006

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

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