Spectrum of skeletal dysplasia in short stature children in tertiary care hospital.

Abstract

Objective: To evaluate the spectrum of skeletal dysplasia in short stature children at National Institute of Child Health (NICH), Pakistan. Study Design: Case Series study. Setting: Department of Endocrinology, NICH, Karachi, Pakistan. Period: January 2022 to November 2023. Methods: Short statured (height < -2.0 SD) children of either gender aged between 1 month up to 16 years and diagnosed with skeletal dysplasia were analyzed. At the time enrollment, gender, age, anthropometric measures, antenatal history, and family history were noted. Complete skeletal survey was performed. Results: In a total of 131 short statured children with skeletal dysplasia, 77 (58.8%) were male. The mean and median age were 5.54±4.33 and 5.0 (1.5-8) years. Consanguinity was reported in 85 (64.9%) cases whereas siblings were affected among 9 (6.9%) cases. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections, reported by 67 (51.1%), 67 (51.1%), 65 (49.6%), and 63 (48.1%) children respectively. Mucopolysaccharidosis (29.0%), achondrodysplasia (13.7%), and osteogenesis imperfecta (10.7%) were the most common types of skeletal dysplasia. Conclusion: Mucopolysaccharidosis, achondrodysplasia, and osteogenesis imperfecta were the most frequent types of skeletal dysplasia. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections. The high prevalence of consanguinity and familial history emphasizes a probable genetic basis for skeletal dysplasia.