Absence of gluteal muscle: Difference between revisions
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{{Infobox medical condition | |||
| name = Absence of gluteal muscle | |||
| synonyms = Gluteal muscle deficiency | |||
| field = [[Orthopedics]], [[Genetics]] | |||
| symptoms = Underdeveloped or missing [[gluteal muscles]], [[hip instability]], [[gait abnormalities]] | |||
| complications = [[Hip dislocation]], [[scoliosis]], [[lower back pain]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]], [[congenital disorder]] | |||
| risks = [[Family history]], [[genetic predisposition]] | |||
| diagnosis = [[Physical examination]], [[genetic testing]], [[imaging studies]] | |||
| differential = [[Muscular dystrophy]], [[spinal muscular atrophy]], [[cerebral palsy]] | |||
| treatment = [[Physical therapy]], [[orthopedic surgery]], [[assistive devices]] | |||
| prognosis = Variable, depends on severity and treatment | |||
| frequency = Rare | |||
}} | |||
The congenital '''absence of the [[gluteal muscle]]''' was described in 1976, as occurring in a brother and sister with absence of [[gluteal muscle]]s and with [[spina bifida occulta]]. It was thought to be caused by an autosomal recessive [[gene]]. | The congenital '''absence of the [[gluteal muscle]]''' was described in 1976, as occurring in a brother and sister with absence of [[gluteal muscle]]s and with [[spina bifida occulta]]. It was thought to be caused by an autosomal recessive [[gene]]. | ||
There was a case of a 28 month old with renal ectopia who showed absence of the gluteal muscle with no spina bifida occulta. This is the only confirmed case of absence of gluteal muscle without spina bifida.<ref>{{Cite journal|last=Vigo|first=G.|last2=Toldo|first2=I.|last3=De Grandis|first3=D.|last4=Beltrame|first4=V.|last5=Sartori|first5=S.|last6=Suppiej|first6=A.|date=2015-05-01|title=PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report|url=http://www.sciencedirect.com/science/article/pii/S1090379815302269|journal=European Journal of Paediatric Neurology|series=Abstracts of the 11th EPNS Congress|language=en|volume=19|pages=S68–S69|doi=10.1016/S1090-3798(15)30226-9|issn=1090-3798}}</ref> | |||
There was a case of a 28 month old with renal ectopia who showed absence of the gluteal muscle with no spina bifida occulta. This is the only confirmed case of absence of gluteal muscle without spina bifida.<ref>{{Cite journal|last=Vigo|first=G.|last2=Toldo|first2=I.|last3=De Grandis|first3=D.|last4=Beltrame|first4=V.|last5=Sartori|first5=S.|last6=Suppiej|first6=A.|date=2015-05-01|title=PP09.14 | |||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
* {{cite journal | doi=10.1111/j.1399-0004.1976.tb00025.x | vauthors=Carnevale A, del Castillo V, Sotillo AG, Larrondo J | title=Congenital absence of gluteal muscles. Report of two sibs | journal=Clin Genet | year=1976 | pages= | * {{cite journal | doi=10.1111/j.1399-0004.1976.tb00025.x | vauthors=Carnevale A, del Castillo V, Sotillo AG, Larrondo J | title=Congenital absence of gluteal muscles. Report of two sibs | journal=Clin Genet | year=1976 | pages=135–8 | volume=10 | issue=3 | pmid = 786514 }} | ||
[[Category:Congenital disorders of musculoskeletal system]] | [[Category:Congenital disorders of musculoskeletal system]] | ||
{{congenital-malformation-stub}} | {{congenital-malformation-stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 22:12, 3 April 2025
| Absence of gluteal muscle | |
|---|---|
| Synonyms | Gluteal muscle deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Underdeveloped or missing gluteal muscles, hip instability, gait abnormalities |
| Complications | Hip dislocation, scoliosis, lower back pain |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, congenital disorder |
| Risks | Family history, genetic predisposition |
| Diagnosis | Physical examination, genetic testing, imaging studies |
| Differential diagnosis | Muscular dystrophy, spinal muscular atrophy, cerebral palsy |
| Prevention | N/A |
| Treatment | Physical therapy, orthopedic surgery, assistive devices |
| Medication | N/A |
| Prognosis | Variable, depends on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
The congenital absence of the gluteal muscle was described in 1976, as occurring in a brother and sister with absence of gluteal muscles and with spina bifida occulta. It was thought to be caused by an autosomal recessive gene.
There was a case of a 28 month old with renal ectopia who showed absence of the gluteal muscle with no spina bifida occulta. This is the only confirmed case of absence of gluteal muscle without spina bifida.<ref>Vigo, G.,
PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report, European Journal of Paediatric Neurology, Vol. 19, pp. S68–S69, DOI: 10.1016/S1090-3798(15)30226-9, Full text,</ref>
References[edit]
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Congenital absence of gluteal muscles. Report of two sibs, Clin Genet, 1976, Vol. 10(Issue: 3), pp. 135–8, DOI: 10.1111/j.1399-0004.1976.tb00025.x, PMID: 786514,
