Table 1 Comparison of clinical features of CMH000079, patients with ASXL3 mutations described by Bainbridge et al. [[23]], and those reported in patients with BOS
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 |