Table I.
Physical features seen in 8 previously unreported patients with Bohring Opitz syndrome.
| Patients: | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
|---|---|---|---|---|---|---|---|---|
| Age/Gender | 11 y F | 3 y F | 3 y M | 3 y F | 12 y F | 3 y M | 1 y F | 7 m M |
| Birth Parameters | ||||||||
| BW in grams (%) | 3118 (20) | 2426 (25–50) | 2300 (3) | 2920 (25) | 2639 (5–10) | 2520 (2) | 2195 (10–25) | 2095 (<0.4) |
| Length in cm (%) | 48 (25) | 43 (<10) | 47 (10) | 36 (<1) | 45 (3) | 45.5 (<2) | 44 (10–25) | * |
| OFC in cm (%) | 35.5 (90–95) | 31 (10–25) | 31 (3) | 33 (10) | 33 (10) | 33.2 (10–25) | 29.5 (10) | 31.0 (<0.4) |
| Craniofacial | ||||||||
| Proptosis | + | + | + | + | + | + | + | + |
| Myopia in diopters (age diagnosed) | −7 (4 m) | −6.5/−7.5 (25 m) | −11/−10 (1 m) | −10.5/−8 (2 y) | −13.5/−17.5 (3 m) | −4 (13 m) | −11 (10 m) | −16/−16 (7m) |
| Upslanting palpebral fissures | − | + | − | − | + | + | + | + |
| Prominent forehead | + | − | + | − | + | − | − | − |
| Microcephaly | − | − | + | − | + | − | + | + |
| Micro/retrognathia | + | + | + | + | + | + | + | + |
| Depressed nasal bridge | + | + | + | + | + | + | + | + |
| Wide nasal bridge | + | − | + | + | + | + | + | + |
| Anteverted nares | + | + | − | + | + | − | + | + |
| Low-set ears, posterior angulation | + | + | − | − | + | − | + | + |
| Overfolding helices | + | − | + | − | + | − | + | − |
| High palate | + | + | + | + | + | + | + | + |
| Prominent palatine ridges | + | + | + | + | − | − | * | + |
| Hair/Skin | ||||||||
| Low hairline | + | + | + | − | + | − | + | + |
| Hypertrichosis | + | + | + | + | + | − | + | + |
| Rapid hair growth | + | + | + | + | + | + | + | + |
| Glabellar nevus flammeus | + | + | + | + | + | + | + | − |
| Neurological/Skeletal | ||||||||
| BOS posture | + | + | + | + | + | + | + | + |
| Pectus excavatum | + | + | + | − | − | − | − | − |
| Contractures | − | − | − | + | + | − | − | + |
| Hypotonia | + | + | + | + | + | + | + | − |
*
Unattainable information regarding patient 7 and 8.