Krone et al reported a score for describing the Antley-Bixter phenotype in a patient iwth P450 Oxidoreductase Deficiency (PORD). The authors are from multiple institutions in Europe and the United States.
Patient selection: P450 oxidoreductase deficiency (PORD)
Parameters:
(1) midface hypoplasia
(2) craniosynostosis
(3) hand and foot malformations (arachnodacytly, clinodactyly, camptodactyly, metacarpal and metatarsal synostoses, wrist deviation, rocker bottom feet, talipes)
(4) synostosis of large joints (radioulnar, radiohumeral, knee, ankle)
(5) bowing of the femurs
(6) number of additional malformations
Parameters
Findings
Points
midface hypoplasia
none
0
mild with low-set ears and pear-shaped nose
1
severe with compressed midfacial skeletal structures and proptosis
2
choanal stenosis or atresia
3
craniosynostosis
none
0
mild (1 suture affected)
1
severe (>= 2 sutures affected)
2
complicated by hydrocephalus
3
hand and foot malformations
none
0
1
1
2
2
>= 3
3
synostosis of large joints
none
0
extension deficit
1
fixed synostosis, joint contracture of 1 large joint
2
fixed synostosis, joint contracture >= 2 large joints
3
bowing of the femur
none
0
present
1
with neonatal fractures
2
additional malformations
0
0
1
1
>= 2
2
total score =
= SUM(points for all 6 parameters)
Interpretation:
• minimum score: 0
• maximum score: 16
Score
Malformations
0
none
1 to 4
mild
5 to 8
moderate
9 to 16
severe
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