Table 1.
Clinical features observed in the affected members.
Individual | I-1 | II-4 | II-6 | II-11 | II-13 | III-2 | III-3 | III-5 | III-6 | III-7 | III-8 |
---|---|---|---|---|---|---|---|---|---|---|---|
Craniofacial | |||||||||||
High, broad forehead | - | - | - | - | - | - | - | - | - | - | - |
Frontal bossing | - | - | - | - | - | - | + | - | + | + | + |
Hypertelorism | - | - | - | - | - | - | + | - | + | + | + |
Broad nasal bridge | + | + | + | - | - | - | + | - | + | + | + |
Hands | |||||||||||
Preaxial polydactyly | + | - | - | - | - | - | - | - | - | - | - |
Postaxial polydactyly | + | + | + | - | - | - | - | - | + | - | + |
Broad thumbs | - | - | + | - | - | - | - | - | - | + | + |
Syndactyly | - | - | - | - | + | - | + | - | + | + | - |
Feet | |||||||||||
Preaxial polydactyly | + | + | + | - | + | + | + | + | + | + | + |
Postaxial polydactyly | - | - | - | - | - | - | - | - | - | - | - |
Broad halluces | - | - | - | + | - | - | - | - | - | - | - |
Syndactyly | + | + | + | + | + | + | + | + | + | + | + |
Variable features | |||||||||||
Low set ears | Finger like biphalangeal thumbs, a unilateral tiny bony outgrowth on distal phalanx of first toe of left foot, dry skin, sparse hair, low set ears | Low set ears | Low set ear, improper long philtrum | Strabismus | Long philtrum, sandle gap, low set ears | Low set ears, sandle gap |