Case #10041 - Sirenomelia apus and situs inversus

Malformative association

 sirenomelia

• femoral fusion

 situs inversus totalis

 unilateral renal agenesis

• solitary kidney with multicystic renal obstructive dysplasia
• ureteral duplication with blind-ending ureters

 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#