Figure 1.

Case 1. (A) Pedigree (using INVITAE Family pedigree tool). M/M indicates a biallelic POC1A variant, M/W a heterozygous carrier. (B) Growth curve (height for age) against CDC chart. (C and D) Frontal and lateral photographs aged 8.8 years. (E) Chest at 8.8 years showing the café au lait spot. (F) Hands show brachydactyly and mild fifth finger clinodactyly and broad thumbs. The nails were broad and short. (G) Feet show broad big toes. (H) Broad upper legs. (I) Muscle cramps aged 21.5 years. (J) Scalp aged 21.5 years. (K) The hand X-ray aged 8.7 years shows short phalanges, cone epiphyses of the distal phalanges, pseudo-epiphysis in the middle phalanx of the index, clinodactyly of the little finger, and a slight delay in bone maturation. (L) The pelvic X-ray aged 8.7 years shows asymmetric involvement of the femoral necks with abnormal remodelling, shortening, and deformity.