Table 2.

Clinical and skeletal phenotype of novel variant of MMP2 gene identified in patient 2 of this study.

Author (year)	Patients N (sex)	Age at presentation (AOO) years	Cranio-facial	Subcutaneous nodules	MPJ, PIPJ, DIPJ	Wrist	Foot/ankle	Proximal/large joints, spine	Radiography	Other systems
Patient 2 of this study	1 (M)	4 (2)	Triangular face with frontal bossing, heavy thick eye brows with partial synophyrus, depressed nasal bridge, bilateral asymmetric ptosis with down-slanting palpebral fissures and strabismus, hypertelorism, thick protruding lower lip, low set posteriorly rotated bat ears and a relatively thin chin	None	MPJ extension def., PIPJ flexion def. especially of the 4th and 5th fingers. No arthritis	None	Left foot was undersized with convex sole and clawing of big toe. No arthritis	Mildly affected knees, otherwise None	Hands and feet showed osteopenia and dysplastic changes, especially of the left hindfoot. Spine lateral views showed mild anterior scalloping of dorsolumbar junction vertebrae. Expansion of middle third of clavicles	Asymptomatic, mild congenital cardiac defect

AOO, age of onset; MPJ, metacarpophalangeal joint; PIPJ, proximal interphalangeal joint; DIPJ, distal interphalangeal joint; IPJ, interphalangeal joint;