Table 1 Phenotype of patients with ACAN mutations.
P1 | P2 | P3 | P4 | P5 | P6 | |
|---|---|---|---|---|---|---|
ACAN Mutation | c.151 T>G p.(Cys51Gly) | c.515del p.(Gln172Argfs*59) | c.1180 C>T p.(Arg394*) | c.1702 G>A p.(Asp568Asn) | c.1774 C>T p.(Gln592*) | c.5597 C>A p.(Ser1866*) |
Inheritance | paternal | maternal | maternal | maternal | maternal | de novo |
Gender | female | female | female | male | male | male |
SGA | X | |||||
Height (SDS) | −3.5 | −3.6 | −3.9 | −3.2 | −3.2 | −2.0 |
Height mother/ father (SDS) | −1.1/−3.2 | −3.8/−2.4 | −1.9/−2.3 | −2.0/−1.8 | −1.8/−0.7 | −0.3/−1.2 |
Stature type | proportionate | proportionate | proportionate | proportionate | proportionate | proportionate |
Bone age | accelerated | delayed | delayed | delayed | na | accelerated |
Osteochondritis dissecans | X (maternal) | X | na | |||
Head circumference (SDS) | 0.5 | −1.6 | −1.7 | −0.2 | 1.6 | 2.7 |
Arm span height ratio | 1 | 1 | 1 | 1 | na | 1 |
Prominent forehead | X | X | X | |||
Short neck | X | X | X | X | ||
Barrel-shaped chest | X | X | X | X | X | X |
Limited supination | X | X | X | X | ||
Brachydactyly | X | X | X |