Clinical features in acromicric dysplasia patients
| Familial cases | Sporadic cases | Total | ||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | |||
| Ethnic origin | Fr | Fr | Fr | Fr | A | A | Fr | Fr | Fr | Fr | Fr | A | Fr | USA | USA | Sp | Sp | Fr | It | Fr | Fr | It | ||
| Sex | F | M | F | M | F | M | F | M | F | F | M | F | F | F | M | F | F | M | M | F | M | M | 10M/12F | |
| Familial case | + | + | + | + | + | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | 6/22 | |
| Length at birth (cm) | 49 | 47 | 49 | 48 | 48 | 46 | 48 | 49 | 47.5 | 49 | 48 | 49 | 46 | 48 | 49.5 | NA | NA | 49 | 51 | 51 | 50 | 50 | 48.6 | |
| Follow up | ||||||||||||||||||||||||
| Age (years) | 48 | 21 | 53 | 22 | 33 | 4 | 8 | 12 | 19 | 20 | 14 | 11 | 9 | 16 | 9.5 | 7 | 8 | 15 | 11 | 21 | 33 | 18 | 18.8 | |
| Height (cm) | 132 | 138 | 120 | 128 | 140 | 93 | 98 | 112 | 115 | 135 | 120 | 118 | 116 | 138 | 111 | 97.5 | 92 | 114 | 106 | 120 +201-150 | 140 | 125 | 130 in adults | |
| Abnormal voice | − | − | + | + | + | − | − | − | + | − | − | NA | NA | − | NA | NA | NA | NA | NA | + | − | − | 5/15 | |
| Well developed muscles | − | + | + | + | − | − | + | − | − | + | − | − | NA | − | NA | NA | + | + | NA | + | + | − | 10/18 | |
| Joint limitation | − | H,Fi | All | All | − | − | E,Fi | − | S | Fi | − | Fi | − | − | E,Fi | NA | NA | H,E | E,F, H,K | E,Fi, H | H | E,H, Fi | 13/20 | |
| Facial dysmorphism | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 22/22 | |
| Heart malformations | − | − | − | − | − | − | − | − | + | − | + | − | − | − | + | − | − | + | − | - | - | - | 4/22 | |
| Hepatomegaly | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | - | - | - | 0/22 | |
| Eye abnormalities | + | + | + | − | + | − | − | − | + | − | + | − | − | + | − | NA | NA | − | − | + | - | - | 8/20 | |
| Ear abnormalities | + | + | + | − | − | − | + | − | − | − | − | − | − | + | + | NA | NA | − | − | − | - | - | 6/20 | |
| Tracheal, respiratory | − | + | + | + | − | − | − | − | + | − | − | − | − | + | − | − | − | + | − | + | - | - | 7/22 | |
| Spine abnormalities | + | − | + | + | + | − | − | + | + | + | + | − | + | − | + | NA | NA | + | − | + | - | - | 12/20 | |
| Carpal tunnel | + | − | + | − | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − | - | - | - | 3/22 | |
Fr, France; A, Africa; Sp, Spain; It, Italy.
F, female; M, male.
H, hips; Fi, fingers; E, elbows; K, knees; S, shoulders.
NA, not available.
↵1-150 +20 cm after limb lengthening procedure.