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sacral agenesis

Thursday 9 February 2006

Definition: Sacral agenesis is the complete absence of the sacrum.

Types

- isolated sacral agenesis
- syndromal sacral agenesis

- sporadic sacral agenesis
- familial sacral agenesis (6214946)

See also

- T/t mutants in mouse
- sacral malformation

Associations

- spina bifida aperta
- spina bifida occulta (SBO)
- lipomyeloschisis
- anorectal malformation
- hydromelia
- tethered spinal cord

Syndromal forms

- OEIS association (omphalocele, cloacal exstrophy, imperforate anus, and spinal deformities)
- VATER association (vertebral abnormality, anal imperforation, tracheoesophageal fistula, and renal-radial anomalies)

References

- Fellous, M.; Boue, J.; Malbrunot, C.; Wollman, E.; Sasportes, M.; Van Cong, N.; Marcelli, A.; Rebourcet, R.; Hubert, C.; Demenais, F.; Elston, R. C.; Namboodiri, K. K.; Kaplan, E. B. : A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. Am. J. Med. Genet. 12: 465-487, 1982. PubMed ID : 6214946

- Pang D, Hoffman HJ. Sacral agenesis with progressive neurological deficit. Neurosurgery. 1980 Aug;7(2):118-26. PMID: 7422107