Table 2 Clinical data of patients with genetic variants identified with the gene screening panel
ID | Age range at initial appointment (years) | Ht-SDS | CA-BA (years) | GH peak (ng/ml) | IGF-1 (ng/ml) | IGF-SDS | Father’s ht. (cm) | Mother’s ht. (cm) | Clinical description |
|---|---|---|---|---|---|---|---|---|---|
P1 | 11~13 | -5.45 | 3.9 | 10.0 | 113 | −2.58 | 165.0 | 158.0 | Unilateral hearing loss, atrial septal defect, cryptorchidism, wide-spaced nipples, hypertelorism, language delay, family history remarkable for brother who died of congenital heart disease |
P2 | 4~6 | −4.18 | 1.0 | 11.1 | 60(50–286) | 168.5 | 149.0 | Facial anomalies (a high, arched palate and flat nose), atrial septal defect | |
P3 | 4~6 | −2.51 | 1.7 | 17.2 | 101 | −1.36 | 178.0 | 153.0 | Facial anomalies (small chin, neck skin webbing, epicanthal folds, gothic arch), atrial septal defect, cryptorchidism, language delay, learning disabilities, sternal deformities (pectus carinatum superiorly) |
P4 | 7~9 | −4.08 | 4.0 | 12.0 | 76 | −1.74 | 176.0 | 161.0 | Wide-spaced eyes, low nasal bridge, short neck |
P5 | 11~13 | −2.36 | −0.4 | 10.0 | 521 | −0.02 | 170.0 | 141.0 | Menarche at 12 years |
P6 | 4~6 | −2.94 | 1.3 | 18.3 | 240(49–283) | 170.0 | 156.0 | Early-onset myopia, cleft palate, flat nose, short fingers | |
P7 | 4~6 | −4.33 | 3.0 | 29.4 | 33(50–286) | 167.0 | 148.0 | No obvious characteristics | |
P8 | 7~9 | −2.83 | 4.5 | 19.0 | 104 | −2.05 | 163.0 | 146.0 | Short limbs (height 117 cm, arm span 110 cm); mild gait disturbance; short bone hand deformity and mild lumbar scoliosis on imaging (as shown in Fig. 1). His father was also short and presented with similar bone deformity with short and limp legs (height 163 cm, arm span 153 cm), in addition to bilateral avascular necrosis of the femoral head on imaging (as shown in Fig. 2). |