The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue and primarily affects the knee, ankle, and elbow joints. Familial osteochondritis dissecans is characterized by multiple osteochondritic lesions in ... The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue and primarily affects the knee, ankle, and elbow joints. Familial osteochondritis dissecans is characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature, and early-onset osteoarthritis (OA) (summary by Stattin et al., 2010). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.
Zellweger and Ebnother (1951) reported a family in which the 4 members with osteochondritis dissecans were dwarfed. In the family reported by Pick (1955), the affected mother and 3 affected daughters were short. Gardiner (1955) reported OD of ... Zellweger and Ebnother (1951) reported a family in which the 4 members with osteochondritis dissecans were dwarfed. In the family reported by Pick (1955), the affected mother and 3 affected daughters were short. Gardiner (1955) reported OD of the knees in a sister and 2 brothers. Tobin (1957) described father and 2 sons with the combination of OD and tibia vara (188700); a daughter had only OD. Stougaard (1961) observed OD of the knees and/or elbows in 9 persons in 3 generations of a family from Denmark. A pair of twins thought to be identical were affected. Andrew et al. (1981) described a family in which 12 persons in 4 generations had OD of knees or elbows or both. Affected persons were short (female adult height, 132-149 cm). Phillips and Grubb (1985) also observed multiple osteochondritis dissecans in association with short stature (adult males, 62-63 inches; adult females, 59 inches) in 4 successive generations with male-to-male transmission. Stattin et al. (2008) studied a 5-generation family from northern Sweden with 15 living affected members with autosomal dominant OD. This family had previously been reported by Stougaard (1964). The main clinical findings were OD in knees and/or elbows, disproportionate short stature with long trunk in relation to the body height, and early-onset osteoarthritis. In 12 of the 15 patients, onset was during late childhood or adolescence and 7 of the 12 had developed OA. Four of 5 affected individuals with OD in the elbow had experienced ulnar nerve entrapment and had undergone ulnar nerve transposition. Stattin et al. (2008) showed that the short stature among affected subjects is a result of the reduced pubertal growth and suggested that children with familial OD might benefit from growth hormone treatment. Stattin et al. (2008) suggested that OA is a frequent complication in familial OD even though the lesions appear before epiphyseal closure.
Stattin et al. (2010) performed sequence analysis of the complete coding region of the ACAN gene in the Swedish family segregating autosomal dominant OD originally reported by Stougaard (1964). They identified a heterozygous missense mutation (V2303M; 155760.0003) in ... Stattin et al. (2010) performed sequence analysis of the complete coding region of the ACAN gene in the Swedish family segregating autosomal dominant OD originally reported by Stougaard (1964). They identified a heterozygous missense mutation (V2303M; 155760.0003) in all 19 affected members. The mutation was not found in any unaffected family member or in 230 control chromosomes derived from unrelated healthy Swedes. The mutation occurred in the C-type lectin domain of the aggrecan G3 domain, which mediates interactions with other proteins in the cartilage extracellular matrix (ECM). Stattin et al. (2010) suggested that loss of G3 interactions in the mutant protein might contribute to a disorganized ECM in the growth plate and thus lead to decreased long bone growth in the affected individuals.