Abstract
Spondylolisthesis (SOL) which is a forward displacement of the vertebra and spondylolysis (SLY) which is a deterioration or fracture in the pars interarticularis of the vertebral arch often occur together with SLY usually giving rise to SOL. These defects often involve the 5th lumbar vertebra and have an increased association with spina bifida occulta of 5th lumbar vertebra and the 1st sacral vertebra. Symptoms usually begin in late adolescence or young adulthood and include back spasm, back pain, sciatic pain, and spinal curvature. Autosomal dominant inheritance (Clin Genet 13:471, 78) has been noted in some families.
Acromial skin dimples (ASD) are rare in normal individuals, but can be found in conditions where there is a deficiency of subcutaneous fat, muscle, and/or bone. Two families (Amer J Hum Genet 26:412, 74 and Amer J Med Genet 6:259, 80) of otherwise normal individuals have been reported with autosomal dominant ASD. No family has been reported with SLY, SOL and ASD.
The present report identifies a 4 generation family of 9 affected persons with SOL and SLY. In those individuals personally examined (4), the presence of ASD is segregating with SOL and SLY. Additionally, the dimples are congenital and are associated with decreased shoulder muscle mass. The uniqueness of this association will be discussed and the potential value of recognition of ASD as a presymptomatic marker for SOL and SLY in the children of affected adults.
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Hall, B. 1291 AUTOSOMAL DOMINANT INHERITANCE OF SPONDYLOLISTHESIS, SPONDYLOLYSIS AND ACROMIAL SKIN DIMPLES. Pediatr Res 19, 326 (1985). https://doi.org/10.1203/00006450-198504000-01315
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DOI: https://doi.org/10.1203/00006450-198504000-01315