Hoyme et al reported a dysmorphology scoring system for evaluating a pediatric patient for features of the Fetal Alcohol Spectrum Disorders. The authors are from Stanford University, University of New Mexico, Foundation for Alcohol-Related Research (Cape Town), University of Witwatersrand, University of California San Diego and State University of New York at Buffalo.
Patient selection: child being evaluated for a fetal alcohol spectrum disorder (FASD)
Parameters:
(1) height as percentile for age, gender and race
(2) weight as percentile for age, gender and race
(3) occipitofrontal circumference as percentile for age, gender and race
(4) palpebral fissure length as percentile for age, gender and race
(5) attention-deficit hyperactivity disorder
(6) fine motor function
(7) midfacial hypoplasia
(8) railroad track ears (Figure 1, right)
(9) ptosis
(10) epicanthal folds not explained by race
(11) flat nasal bridge
(12) anteverted nares
(13) length of philtrum
(14) smooth philtrum
(15) vermilion border of upper lip
(16) cardiac murmur or cardiac malformation
(17) pronation and supination of elbow
(18) clinodactyly of fifth fingers (curving towards fourth finger)
(19) camptodactyly (permanent bending of one or more fingers)
(20) "hockey stick" palmar creases
(21) hirsutism
|
Parameter |
Finding |
Points |
|
height in percentile |
>= 10th percentile |
0 |
|
|
< 10th percentile |
1 |
|
weight as percentile |
>= 10th percentile |
0 |
|
|
< 10th percentile |
2 |
|
occipitofrontal circumference |
>= 10th percentile |
0 |
|
|
< 10th percentile |
3 |
|
palpebral fissure length |
>= 10th percentile |
0 |
|
|
< 10th percentile |
3 |
|
attention deficit hyperactivity disorder |
absent |
0 |
|
|
present |
1 |
|
fine motor function |
normal |
0 |
|
|
abnormal (dysfunction) |
1 |
|
midfacial hypoplasia |
absent |
0 |
|
|
present |
2 |
|
railroad track ears |
absent |
0 |
|
|
present |
1 |
|
ptosis |
absent |
0 |
|
|
present |
2 |
|
nonracial epicanthal folds |
absent |
0 |
|
|
present |
1 |
|
flat nasal bridge |
absent |
0 |
|
|
present |
1 |
|
anteverted nares |
absent |
0 |
|
|
present |
2 |
|
length of philtrum |
normal or short |
0 |
|
|
long |
2 |
|
smooth philtrum |
absent |
0 |
|
|
present |
3 |
|
vermilion border of upper lip |
normal or thick |
0 |
|
|
thin |
3 |
|
cardiac murmur or cardiac malformation |
absent |
0 |
|
|
present |
1 |
|
pronation and supination at elbow |
normal or increased |
0 |
|
|
decreased |
2 |
|
clinodactyly of fifth fingers |
absent |
0 |
|
|
present |
1 |
|
camptodactyly |
absent |
0 |
|
|
present |
1 |
|
hockey stick palmar creases |
absent |
0 |
|
|
present |
1 |
|
hirsutism |
absent |
0 |
|
|
present |
1 |
total score =
= SUM(points for all 21 findings)
Interpretation:
• minimum score: 0
• maximum score: 35 (given as 36 in paper)
• The score is not used to assign a clinical diagnosis in the FASD continuum.
Specialty: Pedatrics, Toxicology
