Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins

Abstract

We report a pair of monozygotic twins with unusual facies and hypoplastic thumbs associated with progressive spinal fusion and joint immobility. The radiographic features were neither consistent with the multiple synostosis syndrome of Herrmann, nor with the spondylocarpotarsal synostosis syndrome. The overall spinal radiographic abnormalities seen in our patients were suggestive of an exceptionally early onset of Forestier disease (anterolateral, perivertebral, ligament ossification), but the thumb hypoplasia and pterygium colli are not seen in that condition. We report what might be a novel genetic entity.

Regulation of valvular interstitial cell calcification by adhesive peptide sequences

“…Progressive non‐infectious anterior vertebral fusion (Copenhagen syndrome) is a radiographic entity likely to akin to congenital block vertebrae [Hughes and Saifuddin, 2006]. Early onset ankylosing vertebral hyperostosis (Forestier‐like disease) resembling congenital block vertebrae of the lumbar region has been reported in a monozygotic twins for the first time by Al Kaissi et al 2007b.…”

“…It is characterized by flowing ossification along four contiguous vertebrae with preservation of the disc spaces. Early onset senile ankylosing vertebral hyperostosis is a radiographic entity likely to be akin to different forms of block vertebrae [Kalifa et al, 2002; Hughes and Saifuddin, 2006; Al Kaissi et al, 2007b]. MURCS patients have a combination of uterine aplasia/hypoplasia, renal agenesis/ectopy, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormality and deafness [Greene et al, 1986; Willemsen, 1982; Braun‐Quentin et al, 1996].…”

Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

“…Progressive non-infectious anterior vertebral fusion (Copenhagen syndrome) is a radiographic entity likely to akin to congenital block vertebrae [Hughes and Saifuddin, 2006]. Early onset ankylosing vertebral hyperostosis (Forestier-like disease) resembling congenital block vertebrae of the lumbar region has been reported in a monozygotic twins for the first time by Al Kaissi et al [2007b].…”

“…It is characterized by flowing ossification along four contiguous vertebrae with preservation of the disc spaces. Early onset senile ankylosing vertebral hyperostosis is a radiographic entity likely to be akin to different forms of block vertebrae [Kalifa et al, 2002;Hughes and Saifuddin, 2006;Al Kaissi et al, 2007b]. MURCS patients have a combination of uterine aplasia/hypoplasia, renal agenesis/ectopy, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormality and deafness [Greene et al, 1986;Willemsen, 1982;Braun-Quentin et al, 1996].…”