Several subtypes of metaphyseal chondrodysplasia exist, of which the Schmid type is the most common. Characteristics include short limbed dwarfism, coxa vara, genu vara, and waddling gait. Skull, spine, and upper extremity involvement is minimal and often nonexistent. The primary defect involves a mutation affecting the metaphyseal portion of the growth plate, while the epiphysis is normal. A large single lineage family with metaphyseal chondrodysplasia, Schmid type (MCDS) was investigated. A genetic pedigree of 135 members of this family showed autosomal dominant inheritance between all 42 affected members. The large sample size allowed for the characterization of a broad range of features present in cases of MCDS. The majority of affected patients exhibited coxa vara with an average neck/shaft angle of 105 degrees. Despite coxa vara, premature osteoarthritis of the hip is not a feature of MCDS. Genu varum is the most prevalent knee disorder in this group, but greater than 30% of patients may exhibit genu valgum. This manuscript highlights MCDS background information, differential diagnoses, treatment options, and prognosis to aid in clinical decision-making.
Identification of a novel
COL10A1
: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method
