Absence of gluteal muscle

The congenital absence of the gluteal muscle was described in 1976, as occurring in a brother and sister with the absence of gluteal muscles and with spina bifida occulta. It was thought to be caused by an autosomal recessive gene.^[1]

There was a case of a 28-month-old with renal ectopia who showed an absence of the gluteal muscle with no spina bifida occulta. This is the only confirmed case of absence of gluteal muscle without spina bifida.^[2]

References

^ Carnevale A, del Castillo V, Sotillo AG, Larrondo J (1976). "Congenital absence of gluteal muscles. Report of two sibs". Clin Genet. 10 (3): 135–8. doi:10.1111/j.1399-0004.1976.tb00025.x. PMID 786514. S2CID 1788339.
^ Vigo, G.; Toldo, I.; De Grandis, D.; Beltrame, V.; Sartori, S.; Suppiej, A. (2015-05-01). "PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report". European Journal of Paediatric Neurology. Abstracts of the 11th EPNS Congress. 19: S68–S69. doi:10.1016/S1090-3798(15)30226-9. ISSN 1090-3798.

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[1976report-1] Carnevale A, del Castillo V, Sotillo AG, Larrondo J (1976). "Congenital absence of gluteal muscles. Report of two sibs". Clin Genet. 10 (3): 135–8. doi:10.1111/j.1399-0004.1976.tb00025.x. PMID 786514. S2CID 1788339.

[2015report-2] Vigo, G.; Toldo, I.; De Grandis, D.; Beltrame, V.; Sartori, S.; Suppiej, A. (2015-05-01). "PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report". European Journal of Paediatric Neurology. Abstracts of the 11th EPNS Congress. 19: S68–S69. doi:10.1016/S1090-3798(15)30226-9. ISSN 1090-3798.

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