Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.
Keywords: RIPPLY2; Skeletal dysplasia; Spondylocostal dysostis.
© 2023. The Author(s), under exclusive licence to Scoliosis Research Society.