[Metaphyseal Chondrodysplasia Type Schmid: Case Report]

Area of Science:

• Genetics
• Pediatrics
• Orthopedics

Background:

• Osteochondrodysplasias encompass diverse bone and cartilage development abnormalities.
• Metaphyseal chondrodysplasia Schmid type (MCDS) is a rare subgroup, often underdiagnosed due to limited awareness.
• MCDS results from COL10A1 gene variants, impacting endochondral ossification and causing characteristic skeletal deformities.

Purpose of the Study:

• To highlight the diagnostic challenges and importance of recognizing Metaphyseal chondrodysplasia Schmid type.
• To present a case study of a 4-year-old female diagnosed with MCDS.
• To emphasize the role of genetic analysis in confirming the diagnosis and guiding genetic counseling.

Main Methods:

• Phenotypic and radiological assessment of a pediatric patient with short stature and genu varum.
• Skeletal disorder panel testing including sequence and deletion/duplication analysis.
• Genetic variant identification in the COL10A1 gene.

Main Results:

• A pathogenic variant in the COL10A1 gene was identified in the patient.
• Clinical presentation and radiological findings were consistent with MCDS.
• Differential diagnosis challenges, including rickets and idiopathic genu varum, were noted.

Conclusions:

• Accurate diagnosis of MCDS requires awareness of osteochondrodysplasias beyond common childhood skeletal disorders.
• Early diagnosis facilitates multidisciplinary management to prevent mobility limitations and chronic pain.
• Genetic screening and counseling are important due to the condition's autosomal dominant inheritance pattern.