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. 2022 Nov 9;31(2):195–201. doi: 10.1038/s41431-022-01220-9

Table. 3.

Summary of previously reported auxological data.

Akawi et al. [16] Kernohan et al. [7] Agolini et al. [810] Valenzuelaa et al. [11] Birnbaum et al. [12, 13] Poquérusse et al. [14, 15]
Short stature X X X X X X
Length at birth NA 46 cm, −2.06 SD

Case 1: 47 cm, −2.05 SD

Case 2: 49 cm, −0.98 SD

Case 3: 48 cm, −1.31 SD

45 cm, −2.3 SD NA NA
Height at last follow-up

Case 1: 151.5 cm, −1.98 SD (adult height)

Case 2: NA

Case 3: 146.6 cm, −2.8 SD (adult height)

Case 4: 150 cm, −1.4 SD (14 years)

Case 5: 132 cm, −2.0 SD

(9 years 7 months)

Case 6: 102 cm, −2.9 SD

(6 years 2 months)

110 cm, −1.93 SD

(8 years)

Case 1: 90.3 cm, −2.37 SD (3 years and 7 months)

Case 2: 160 cm, −1.92 SD (adult height)

Case 3: 145.5 cm, −2.77 SD (adult height)

66 cm, −2 SD

(10 years)

Case 1: NA

Case 2: length<4 SD (21 months)

Case 1: 3rd centile (6 years)

Case 2: 0.4th centile (5 years)