Progressive non-infectious anterior vertebral fusion in a baby with Saethre-Chotzen-acrocephalosyndactyly type III syndrome

Abstract

We report on a 3-months old baby of Austrian origin and product of non-consanguineous parents. Abnormal craniofacial contour was the main deformity. The overall clinico-radiographic features were consistent with Saether-Chotzen-acrocephalosyndactyly type III syndrome. Bi-directional sequencing of the exon 8 and of the FGFR3-genes, exons 7 of FGFR3 (Fibroblast growth factor receptor3) genes, the exon 5 of the FGFR1 gene, revealed no mutations. Sagittal MRI imaging of the spine showed anterior vertebral fusion along the thoraco-lumbar vertebrae compatible with the non-infectious type.

Keywords

syndrome Saethre-Chotzen / akrotsefalosyndactyly

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RIGHTS & PERMISSIONS

Al Kaissi A., Grill F., Ganger R.