Table 1.
Clinical Findings in Individuals with BMKS
| Family | BMKS001 | BMKS001 | BMKS002 | BMKS004 | BMKS005 | BMKS006 | BMKS007 | BMKS007 | BMKS008 | BMKS009 | BMKS010 | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Individual | III/1 | III/2 | II/1 | II/1 | II/4 | II/1 | II/1 | II/2 | II/1 | II/1 | 14 | |
| Sex | M | M | M | F | F | F | M | M | 2 F, 2 M | F | M | 6 F, 8 M |
| Positive family history | + | + | − | − | − | − | + | + | + | − | − | 5/14 |
| Hypertelorism | + | + | + | + | + | + | + | + | 2/4 | + | + | 12/14 |
| Short palpebral fissures | + | + | + | + | + | + | + | − | 4/4 | + | + | 14/14 |
| Defect of lower eyelids | + | + | + | − | + | − | + | − | 4/4 | + | + | 12/14 |
| Prominent nasal bridge | + | + | + | + | − | + | + | + | 4/4 | + | + | 13/14 |
| Short philtrum | + | + | + | + | + | + | + | + | 2/4 | + | + | 12/14 |
| Thin lips | + | (+) | − | − | + | − | + | + | 1/4 | + | + | 8/14 |
| Cleft lip or palate | − | − | + | + | + | − | − | − | 3/4 | + | + | 8/14 |
| Bifid uvula | + | − | − | − | − | − | − | − | 1/4 | − | − | 2/14 |
| Bilateral choanal atresia/stenosis | + | + | + | + | + | + | + | + | 4/4 | + | + | 14/14 |
| Prominent ears | + | + | − | + | + | − | + | + | 2/4 | + | + | 10/14 |
| Preauricular tags | − | + | − | + | + | + | − | − | 4/4 | − | − | 8/14 |
| Micrognathia | − | − | − | + | − | − | + | + | 4/4 | + | + | 9/14 |
| Cardiac defect | − | − | − | + | + | − | + | − | 1/4 | − | − | 4/14 |
| Hearing loss | + | − | + | + | − | − | + | + | 4/4 | + | − | 10/14 |
| Normal psychomotor development | + | + | + | (+) | + | + | + | + | 4/4 | + | + | 13/14 |
| Short stature | − | − | − | + | + | − | + | − | 0/4 | − | − | 2/14 |
| Others | unilateral renal agenesis | bilateral aplasia of lacrimal ducts, amblyopia on the left, microstomia | absent l cochlear nerve, reduced right (implant not possible) | inguinal hernia, right eye: herniation into right chamber | inguinal hernia | syndactyly toes II/III |