Table 1.
Clinical features in three cases of DA5
| Phenotype | Individual 1 (I802F) (35-y-old mother) | Individual 2 (I802F) (5-y-old son) | Individual 3 (Δ2727E) (38-y-old female) |
| Short stature | Yes | Yes | Yes |
| Narrow/high palate | Yes | Yes | Yes |
| Reduced ability to open mouth | Yes | Yes | Yes |
| Decreased facial expression | Yes | Yes | Yes |
| Ophthalmoplegia | Yes | Yes | Yes |
| Deep-set eyes | Yes | Yes | Yes |
| Blepharophimosis | No | Yes | No |
| Ptosis | Yes | Yes | Yes |
| Hypermetropia | Yes (+7 o.u.) | Yes (+8/+10) | Yes |
| Duane anomaly | Nd | Nd | Yes |
| Abnormal retinal pigmentation | No | Nd | Yes |
| Macular retinal folds | No | Nd | Yes |
| Hunched anteverted shoulders | Yes | Yes | Yes |
| Restrictive lung disease | Yes | Likely | Yes |
| Spine stiffness | Yes | Yes | Yes |
| Hypermobile first metacarpophalageal | Yes | Yes | Yes |
| Absent phalangeal creases | Yes | Yes | Yes |
| Poorly formed palmar creases | Yes | Yes | Yes |
| Limited wrist extension | Yes | Yes | Yes |
| Absent ACL (knee) | Yes | Probably | No |
| Camptodactyly | Yes | Yes | Yes |
| Clinodactyly | Digits III–V | Digit V | Yes |
| Club feet | No | Yes, left | No |
| Dimples over large joints | Yes | Yes | No |
| Exertional dyspnea | Yes | Yes | Yes |
| Constriction of urethra | Yes | No | No |
| FEV1/FVC | 60%/53% | Nd | 28%/26% |
| Increased muscle tone | Yes | No | Yes |
| Tendon reflexes | Weak and absent in knees and ankles | Weak | Weak |
| Normal intelligence | Yes | Yes | Yes |
| Hearing loss | No | Nd | Yes (subjective) |
| Musculoskeletal pain | Yes, major problem | Nd | No |
| Altered pain sensation | Possibly as child | High threshold suspected | Nd |
ACL: anterior cruciate ligaments; Nd: not determined; o.u.: oculus uterque.