Inheritance | Two sisters | Sporadic | AD | AR |
IUGR | + | + | +/- | +/- |
Postnatal growth retardation | - | + (<3rd centile) |
+/-
| + (<3rd centile) |
Psychomotor development | Normal | Retarded | Normal | Normal |
Dysplastic ears (1st branchial arch) | + | + | - | - |
Depressed nasal bridge/midface hypoplasia | + | +/- | + | + |
Grooved nasal tip | - | + | - | - |
Eye anomalies | - | Cataract, strabismus | Myopia, chorioretinal degeneration | - |
Joint laxity | - | + | + | + |
Delayed bone age | + | + | - | - |
Epiphyseal dysplasia | + |
+
| + | - |
Metaphyseal dysplasia | +/- | - | + | + |
Vertebral dysplasia | Coronal clefts, odontoid hypoplasia | Coronal clefts, odontoid hypoplasia | Mild platyspondyly | Abnormal height and shape of vertebral bodies |