Figure 1.
Figure 2.
Clinical features described in published KDS patients and our patients_
| Total number of analyzed cases: | 15 (12 males / 3 females) | (Male) |
|---|---|---|
| Symptom name | Symptom occurrence | Case 1 |
| ptosis | 12 | + |
| lumbar lordosis | 11 | + |
| small build | 10 | + |
| cryptorchidism | 10 | + |
| antimongoloid obliquity | 10 | + |
| low set ears | 10 | + |
| kyphosis/ kyphoscoliosis | 9 | + |
| malignant hyperthermia | 9 | − |
| pectus carinatum/excavatum | 8 | + |
| hypoplastic mandible | 8 | − |
| motor development delay | 8 | + |
| webbed neck | 6 | − |
| high arched palate | 5 | + |
| joint hyperextensibility | 5 | + |
| palpebral slant | 4 | − |
| crowded lower teeth | 2 | − |
| mental development delay | 2 | − |
| scapular winging | 2 | + |
| clinodactyly | 2 | + |
| long face | 2 | − |
| hypertelorism | 2 | + |
| extra fontanelle | 1 | − |
| hip dislocation | 1 | + |
| strabismus | 1 | − |
| pes cavus | 1 | + |
| protuberant nose | 1 | + |
| long upper lip | 1 | + |
| prominent philtrum | 1 | − |
| scaphocephaly | 1 | − |
| rocker bottom foot | 1 | − |
| swallowing problem | 1 | − |
| deep set eyes | 1 | + |