| |
CMH000079
|
Reported in Bainbridge et al.
|
Reported in Bohring-Opitz
|
|---|
|
Trigonocephaly
|
Y
|
N
|
Y
|
|
Microcephaly
|
Y
|
Y
|
Y
|
|
Flammeus nevus
|
N
|
N
|
Y
|
|
Prominent eyes
|
Y
|
Y
|
Y
|
|
Micro- or retrognathia
|
N
|
Y
|
Y
|
|
Abnormal palate
|
N
|
Y
|
Y
|
|
Typical BOS posture
|
N
|
N
|
Y
|
|
Feeding difficulties
|
Y
|
Y
|
Y
|
|
IUGR
|
Y
|
Y
|
Y
|
|
Severe/profound learning difficulties
|
Y
|
Y
|
Y
|
|
Upslanting palpebral fissures
|
Y
|
NA
|
Y
|
|
Posteriorly rotated eats
|
Y
|
Y
|
Y
|
|
High arched palate
|
N
|
Y
|
N
|
|
Deep palmar creases
|
N*
|
Y
|
N
|
|
Slight ulnar deviation of the hands
|
N
|
Y
|
N
|
|
Recurrent infections
|
Y
|
NA
|
Y
|
|
Seizures
|
N
|
NA
|
Y
|
|
Arrhythmias
|
N
|
NA
|
Y
|
|
Apneas
|
Y#
|
NA
|
Y
|
|
Epicanthal folds
|
Y
|
NA
|
Y
|
|
Broad alveolar ridges
|
N
|
NA
|
Y
|
|
Cleft/notch lip
|
N
|
NA
|
Y
|
|
Cleft palate
|
N
|
NA
|
Y
|
|
Buccal frenulae
|
N
|
NA
|
Y
|
|
Depressed nasal bridge
|
Y
|
Y
|
Y
|
|
Anteverted nares
|
Y
|
Y
|
Y
|
|
Strabismus
|
N
|
NA
|
Y
|
|
Anterior chamger abnormalities
|
N
|
NA
|
Y
|
|
Myopia
|
Y
|
NA
|
Y
|
|
Retinal/optic nerve abnormalities
|
N
|
NA
|
Y
|
|
Low hairline
|
N
|
NA
|
Y
|
|
Hypertrichosis
|
Y
|
NA
|
Y
|
|
Fixed contractures
|
N
|
NA
|
Y
|
|
Congenital dislocations
|
N
|
NA
|
Y
|
|
Hypotonia
|
Y (trunk)
|
Y
|
Y
|
|
Hypertonia
|
Y (distal)
|
Y
|
Y
|
|
Brain abnormalities
|
Y
|
Y
|
Y
|
|
Genital abnormalities
|
N
|
NA
|
Y
|
|
Renal abnormalities
|
N
|
NA
|
Y
|
|
Cardiac abnormalities
|
N
|
NA
|
Y
|
- Table adapted from [15], bolded symptoms are the 10 common/specific features of BOS.
- NA- Feature not commented on.
- *- Some redundancy of skin on hands and palms noted.
- #- History of obstructive sleep apnea; no history of central sleep apnea.
