Pseudoacondroplasia: diagnostic analysis and multidisciplinary approach to a patient with congenital and tall basal escoliosis

Abstract

Background: Pseudoachondroplasia (PSACH) is a rare skeletal dysplasia with autosomal dominant inheritance, caused by mutations in the COMP gene. It is characterized by disproportionate short stature, progressive skeletal deformities, and joint laxity, without cognitive impairment or growth hormone axis involvement. Early diagnosis is essential to avoid unnecessary endocrine evaluations and treatments.

Purpose: To describe the clinical case of a patient with PSACH associated with congenital scoliosis and short stature, emphasizing the importance of differential diagnosis from the endocrinology perspective and the need for timely multidisciplinary management.

Case presentation: We present a 20-year-old female with congenital scoliosis and severe short stature (111.5 cm; -8.89 SD), with progressive limb deformities. Physical examination revealed rhizomelic shortening, relative macrocephaly, and distinctive facial features. Whole-exome sequencing confirmed a heterozygous pathogenic variant c.1159T>G (p.Cys387Gly) in the COMP gene. Bone densitometry showed severe osteopenia in the spine and femur, with normal results in the forearm. The GH-IGF1 axis was normal. Lifestyle modifications and adequate calcium and vitamin D intake were recommended, along with orthopedic and metabolic follow-up.

Discussion: Disproportionate short stature warrants differential diagnosis beyond endocrine causes. PSACH can mimic endocrine disorders, highlighting the key role of the endocrinologist in avoiding misdiagnosis. Early detection of complications such as osteopenia is essential to guide long-term care.

Conclusions: Timely diagnosis and a multidisciplinary approach are crucial to improving functional outcomes and quality of life in patients with PSACH.