“…X-linked chondrodysplasia punctata (CDPX1) is a rare bone and cartilage disorder causing shortened distal digits (brachytelephalangy), epiphyseal stippling, and nasomaxillary hypoplasia, with variable phenotype from mild to severe symptoms including spinal cord stenosis, mixed sensorineural and conductive hearing loss, respiratory involvement, and learning disability (Braverman et al, 2008). There is variable expressivity in clinical features, with most affected having mild bony symptoms that improve with time, but some with more severe features such as cervical cord compression or stenosis, dysplasia or subluxation of cervical vertebra, central apnoea, tracheal stenosis, or nasal obstruction requiring surgical fixation (Nino et al, 2008).…”