Severe Progression of Scoliosis Beyond Skeletal Maturity in Partial Trisomy 13: A Case Report Expanding the Phenotypic Spectrum.

Partial trisomy 13 (Patau syndrome) is a rare chromosomal disorder with variable survival and a wide spectrum of congenital anomalies. While skeletal abnormalities have been described, scoliosis remains infrequently reported, particularly in adolescents with partial trisomy 13 who survive beyond early childhood. We report the case of an 18-year-old male with partial trisomy 13 due to an unbalanced 13;21 translocation who developed progressive thoracolumbar scoliosis during adolescence. The patient was diagnosed with scoliosis at age 13, measuring 33°, and was initially managed with Boston bracing. Bracing was discontinued after two years following a spontaneous pneumothorax due to concerns regarding pulmonary compromise. Despite skeletal maturity, the spinal deformity progressed to a 98° thoracolumbar curve by age 18. Associated features included hypotonia, microcephaly, and neuromotor delay. Even with the severity of the deformity, the patient remained at baseline functional status, including independent seated mobility and preservation of usual daily function. Following multidisciplinary evaluation and shared decision-making with the family, surgical intervention was deferred because the potential risk of postoperative functional decline was felt to outweigh the expected benefit given his preserved baseline mobility and quality of life. This case represents a rare instance of severe scoliosis progression beyond skeletal maturity in partial trisomy 13, a finding not well described in the existing literature. It highlights the need for close longitudinal surveillance and individualized multidisciplinary management strategies that prioritize functional outcomes and patient-centered goals of care.