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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

From: De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

  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
  1. Table adapted from [15], bolded symptoms are the 10 common/specific features of BOS.
  2. NA- Feature not commented on.
  3. *- Some redundancy of skin on hands and palms noted.
  4. #- History of obstructive sleep apnea; no history of central sleep apnea.