Table 1.

Clinical and skeletal phenotype of c.302G>A p.(Arg101His) recurrent MMP2 gene variant identified in patient 1 of this study and previously reported literature.

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
Martignetti et al. (2001)	3 (1 family, 2 M, 1 F)	12 (5) 19 (6) 10 (6)	Frontal bossing, hypertelorism, but no coarse facial features	Mobile, non-tender, hard, smooth surfaced plantar nodules	MPJ, PIPJ in the form of hand clawing	Involved	Involved	Elbowsa, knees, shoulders	Diffuse osteopenia, subcortical erosions, medullary expansion, arthritis/deformity of carpus, wrist IPJ(s) MPJ(s) and feet. Pathologic fractures of right humerus and femur (one patient)	None
Zankl et al. (2007)	1 (F)	13.5 years (8 mos)	Coarse facial features and flat nasal bridge	Painless plantar nodules	All involving (arthritis/fusion)	Involved	Toes (hyperextension) and ankle stiffness, the right foot showed arthritis/joint erosions of IPJ of big toeb, hallux valgus and marked varus (inversion) deformity.	Knees, elbows, sacroiliac joints	Diffuse osteopeniac, subcortical erosions, medullary expansion, arthritis of carpus, wrist. IPJ(s) and some MPJ(s), fusion of thumb IPJ and patella-femoral joint, striated distal femoral and proximal femur metaphyses. Non-united pathologic fracture proximal phalanx of index of left hand and of undisplaced (greenstick) fractures of bases of metacarpals of right hand. The distal ends of the metacarpals were broad in the right and tapering in the left hand (at same point in time).	High arched palate and epicanthal folds
Bhavani et al. (2016)	1 (F)	9 years (by birth)	Coarse facial features and bullous nose	Plantar nodules	MPJ, and PIPJ of the right hand especially little finger	Involved	Bilateral hallux valgus especially the right foot and hyperextension of the greater toe of left foot. Mild clawing of lesser toes bilaterally	None	Diffuse osteoporosis, subcortical erosions, medullary expansion of metacarpals, metatarsals and to lesser extent the phalanges. Mild carpotarsal osteolysis. Generally, hands more affected than feet	Hirsutism
Patient 1 of this study	1 (M)	6.5 years (2 years)	Prominent forehead, hypertelorism, a depressed nasal bridge, long philtrum, large ears, thick protruding lower lip, but no coarse facial features	None	MPJ and PIPJ (deformity, no arthritis)	Involved	Greater toes, extension deformity and right hallux valgus	None clinically (radiography not done)	Hands show diffuse osteopenia, bilateral carpal osteolysis more pronounced on the right, minute pathologic fractures of metacarpals and feet (with osteopenia and midtarsal osteolysis), tapering of the proximal ends of metacarpals and transverse metaphyseal striations.	Dentition problems, asymptomatic, mild congenital cardiac defect

Zankl et al. (2007), patient had a compound heterozygote for two mutations in the MMP2 gene; NR, not reported; AOO, age of onset; MPJ, metacarpophalangeal joint; PIPJ, proximal interphalangeal joint; DIPJ, distal interphalangeal joint; IPJ, interphalangeal joint.

^aThe article reported proximal joint involvement collectively in a case series with various mutations. We were unable to associate this involvement with our target mutation/patients.

^bRadiographs of the right foot were well-described while those of the left were neither shown nor detailed in the text.

^cStriations of femoral and tibial metaphyses and phalanx non-union are most likely secondary to alendronate therapy (a subtype of bisphosphonate) and not necessary disease-specific. The same applies to the striations found in patient 1 of this study.