Figure 3.

Phenotype of fetus and father with Stickler syndrome due to a COL2A1 variant. (a) 3rd trimester ultrasound showing femoral shortening and bowing; (b) 3rd trimester ultrasound showing pathological lower facial angle at 44° corresponding to microretrognathia; (c) Affected father: short and stocky appearance; (d) Feet of affected father; (d) Feet of affected father: right 4th toe and left 4th and 5th toes are proximally implanted and the lower limbs show bowing at the ankles; (e) Left hand of affected father: short hand and brachydactyly.