Table1: Characteristics of patients diagnosed with SEDT or SEDT-PA, presented in the literature.

 

Number of cases- diagnosis

Age

Gender

Initial symptom/The age of one set

Concomitant disorder

Wyne-Davies R et al. [12]

15/ SEDT-PA

8-38

ND

Swelling in peripheral joints/ The age of one set: 3-8, 11

ND

Rasore-Quartino A et al.  [13]

1/SEDT-PA

8

M

Peripheral joint symptoms, The age of one set: 3

Generalize osteopenia

El-Shanti HE et al. [14]

6/SEDT-PA

4-52

F (2), M, (4)

Genu varum, swelling in hand joints, short stature / The age of one set: 3

ND

Cogulu O et al. [15]

1/SEDT-PA

11

F

Difficulty in walking, joint contractures/The age of one set: 3

Osteoporosis

Kocyigit H et al. [11]

1/SEDT-PA

22

F

Low back pain, walking disturbances/ The age of one set: 7

ND

Hirata Y et al. [16]

1/SEDT

58

F

Walking disturbances/ The age of one set: 5

Corneal opacity

Arslanoglu S et al.  [5]

1/SEDTA-PA

12

F

Walking disturbances/ The age of one set: 4 

ND

Sarıoğlu S et al. [4]

1/SEDT

30

M

Walking disturbances/ The age of one set: 6

ND

Ehl S et al. [17]

1/SEDT-PA

14

M

Swelling in both small and large weight-bearing joints, The age of one set: 4

Generalize osteopenia

Kaptanoğlu E et al. [18]

1/SEDT-PA

9

F

Pain in peripheral joints, The age of one set: 6

Generalize osteopenia

Kurtulmuş Ş et al. [19]

1/ SEDT

34

M

Low back pain, short stature, The age of one set: 10

Osteoporosis

Bennani L et al. [10]

3/ SEDT-PA

4-14

F, M(2)

Joint swelling in the hand, wrists, ankles/

The age of one set: 1-4

ND

Tuğ E et al. [7]

1/SEDT-PA

40

F

Walking disturbances/ The age of one set: 8 

Osteoporosis

Bal S et al. [8]

 

4/SEDT-PA

6-38

F(2),

M(2),

Walking disturbances, swelling of hand joints, low back pain/ The age of one set: 3-13

ND

Batmaz I et al. [20]

1/SEDT-PA

19

M

Low back pain, pain and restricted range of motion in hips, The age of one set: 10

Osteoporosis

Mandal SK et al.  [6]

1/SEDT-PA

14

M

Low back pain, pain in hip joints/ The age of one set: 6

Subcapsular cataract

Our case

1/SEDT-PA

21

M

Low back pain, pain in the hip, knee and ankle joints The age of one set: 6

Capsuler cataract, Osteoporosis

 

SEDT: Spondyloepiphyseal dysplasia tarda, SEDT-PA: Spondyloepiphyseal dysplasia tarda with progressive arthropathy, ND: Not defined, M: Male, F: Female.