Year: 2025
Type: article
Study design: Case Report
Abstract: Langer's Mesomelic Dysplasia (LMD) is a rare autosomal recessive skeletal disorder characterized by disproportionate shortening of mesomelic and acromelic limb segments due to mutations in the SHOX gene.We present the case of a 4- year-old female who presented with severe short stature and limb deformities.Clinical evaluation revealed mesomelic shortening, Madelung deformity, brachydactyly, and joint movement restriction. Radiographic and genetic investigations confirmed SHOX gene mutation. Management was multidisciplinary, focusing on orthopedic correction, physiotherapy,growth monitoring,and psychological support.Growth hormone therapy showed limited benefit due to SHOX deficiency–related growth plate resistance. This case emphasizes the need for early diagnosis, genetic counseling,and supportive interventions to improve quality of life in affected individuals.
Authors: Kuldip Savaliya, Kuldip Rajvi, Aparna K
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414101582