Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

Abstract

We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or tarsal involvement, and broad ribs and clavicles. Spinal X-rays were available from age 4 to 21, demonstrating that the spinal involvement was progressive and led to a complete anterior and lateral fusion of vertebrae. A complete sequencing of the NOGGIN gene failed to find any mutation. In addition, this girl was carrier of an apparently balanced reciprocal translocation t(10;20)(p11;p13). We investigated the role of the BMP2A gene as a potential candidate gene. Fluorescence in situ hybridization with YAC probes from chromosome 20 showed that the BMP2A gene was not disrupted by the translocation breakpoint.

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

“…However, there were no distinctive clinical or radiological features signifying a syndromic association, apart from one child, who presented with spinal dysraphism, but neither cervical vertebral fusion nor situs inversus visceralis were described. Philip et al [9] described involvement of both the upper thoracic (T2-T5) and lower thoracic (T10-S1) vertebrae, associated with radio-ulnar synostosis, exostosis, short and broad clavicles, and a balanced t(10;20)(p11;p13) translocation. There was no cervical vertebral fusion, spilt cord malformation or situs inversus visceralis.…”

Presentation and outcome of patients treated non-operatively or operatively for Copenhagen Disease: a 30-year experience

“…In the current literature, only 66 cases have been described, mostly as case reports [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], with the largest series from the University Hospital of Copenhagen, lending its name to this condition [1]. However, Mosenthal was the first to fully describe this condition in 1931 [18].…”