TABLE 1.
Clinical features.
| III‐1 (proband) | II‐1 (father) | |
|---|---|---|
| Age at latest examination | 8 years 1 month | 41 years 9 months |
| Height | 116.5 cm (−2.72 SD) (Juliusson et al., 2009) | 153 cm (−3.47 SD) (Juliusson et al., 2009) |
| Arm span | 113.5 cm | 157.5 cm |
| Sitting height (upper segment) | 68.7 cm, (Between 0 SD and −1 SD (Fredriks et al., 2005)) | 94.8 cm, (0 SD for 21 year olds (Fredriks et al., 2005)) |
| Sitting height/height ratio |
68.7/116.5 = 0.59 (>+2.5 SD (Fredriks et al., 2005)) |
94.8/153 = 0.62 (>+2.5 SD for 21 year olds (Fredriks et al., 2005)) |
| Weight | 27.3 kg (−0.11 SD) (Juliusson et al., 2009) | 109 kg (+2.36 SD) |
| Birth weight, length | 4230 g (1.13 SD) (Juliusson et al., 2009), 51 cm (0.13 SD) (Juliusson et al., 2009) | NA |
| Occipto‐frontal circumference | 52.5 cm (−0.35 SD) (Juliusson et al., 2009) | 60.5 cm, 0.5 cm above the 97.5th centile (Waaler, 1983) |
| Inner canthal distance | 2.5 cm (−1 SD to −2 SD (Hall, 2007)) |
2.8 cm (~−1 SD for 16 year olds (Hall, 2007)) |
| Hyperextensible interphalangeal joints (fingers and toes) | + |
+ |
| Joint luxations | − | Both patellas after initiating growth hormone treatment at age 11 years |
| Gross motor delay | ‐ Walked at ~1 year | NA |
| Proptosis/prominent eyes | − | − |
| Short neck | − | + |
| Webbing | + | + |
| Sloping shoulders | (+) | + |
| Prominent forehead | − | − |
| Low‐set ears | − | − |
| Downturned palpebral fissures | − | − |
| Microstomia | − | − |
| Atrophic scars | − | + |
| Micrognathia | − | − |
| Low nasal bridge | − | − |
| Pectus excavatum/carninatum | − | − |
| Broad fingers/toes | − | − |
| Sandal gap | + | + |
| Broad feet | − | + |
| Hypotonia | − | − |
| Fractures | − | − |
| Radio‐ulnar synostosis | − | − |
| Congenital heart defect | − | − |
| Blue sclerae | − | − |
| Glaucoma | Not examined | Not examined |
| Reduced bone density | Not examined | Not examined |
|
Humerus length [mm] (AVG ± 2 SD) |
21 days: 58 (63–79) 12 months: 90 (94–116) 8 years: 183 (199–246) |
40 years: NA |
|
Radius length [mm] (AVG ± 2 SD) |
21 days: 49 (54–64) 12 months: 69 (76–93) 8 years: 130 (149–186) |
40 years: NA |
|
Ulna length [mm] (AVG ± 2 SD) |
21 days: 57 (61–72) 12 months: 82 (85–103) 8 years: 147 (163–201) |
40 years: NA |
|
Femur length [mm] (AVG ± 2 SD) |
21 days: 64 (72–96) 12 months: 111 (128–149) 8 years: 258 (294–351) |
40 years: 440* (481–574) |
|
Tibia length [mm] (AVG ± 2 SD) |
21 days: 58 (60–83) 12 months: 86 (99–122) 8 years: 206 (230–296) |
40 years: 295* (390–496) |
|
Fibula length [mm] (AVG ± 2 SD) |
21 days: 56 (56–80) 12 months: 92 (96–117) 8 years: 210 (228–293) |
40 years: 320* (379–475) |
Note: Clinical features of the proband and father.
Abbreviations: NA, not available; SD, standard deviation.
After femoral lengthening.