Case #10041 - Sirenomelia apus and situs inversus
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Sirenomelia and heterotaxy, Sirenomelia and situs anomaly
Malformative association
sirenomelia
situs inversus totalis
unilateral renal agenesis
- solitary kidney with multicystic renal obstructive dysplasia
- ureteral duplication with blind-ending ureters
bladder agenesis
- blind-ending colon
external genitalia agenesis
aqueduct of Sylvius agenesis
- hydrocephaly
- ventricular dilatation
- sacral agenesis
- dorsolombar rachischisis
iliac anomalies
Candidate genes
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