Table 2 Genotype–phenotype data of patients with systemic disorders involving the musculoskeletal system

2.1 Mucopolysaccharidosis

 2.1.1

4 year/M

Distended abdomen, developmental delay

No

 − 

Pathogenic

IDUA

c.1882C > T

p. Arg628Ter

Hom

MPS I

 2.1.2

3 year/M

Coarse facial features, developmental delay, recurrent infections and hernia

No

 − 

Pathogenic IDUA

c.1403-1G > A

Hom

MPS I

 2.1.3

2 year/M

Dolicocephaly,

Regression of gross motor skills, hepatosplenomegaly, renal rickets, osteopenia, abnormal liver function and loss of subcutaneous fat

Fanconi Bickel Syndrome

Yes

-

Novel

Likely pathogenic IDS

c.1493 G > C p.Arg498Thr

Hemi

MPS II

 2.1.4

3.5 year/M

Kyphoscoliosis, short trunk, knock knees, hepatosplenomegaly

Yes

 + 

Likely pathogenic

GALNS c.647 T > C

p.Phe216Ser

Hom

MPS IV A

 2.1.5

7 year/M

Hypocalcemic seizures, hypoparathyroidism, delayed milestones, hypertelorism, high arched palate, depressed nasal bridge, upturned nose, long philtrum, low set ears, platyspondyly, corneal clouding and sternum protuberance

Yes

 + 

VUS

GUSB

c.1499G > T; p.Cys500Phe

Hom

MPSVII

2.2 Mucolipidosis

 2.2.1

7 year/F

Underdeveloped femoral heads, Difficulty in holding things, Unconventional sitting position

Yes

 − 

Pathogenic GNPTG c.196C > T

p.Arg66Ter

Hom

Mucolipidosis-III

 2.2.2

4 year/F

Short stature, clubbing of digits, hepatosplenomegaly

No

 − 

VUS

GNPTAB

c.A32G

p.Tyr11Cys

c.3335 + 1G > A

Compound het

Mucolipidosis II

 2.2.3

9 year/F

Skeletal problems, short stature, micromelia, pain while walking, breathlessness due to scoliosis and collapsed rib cage

No

 −