Bartholdi et al reported a clinical score for evaluating a patient for Silver-Russell Syndrome (SRS). The authors are from the University of Zurich, Children's Memorial Health Institute of Warsaw, Tartu University, Belorussian Research Institute of Hereditary Diseases, Istanbul University and Maryland Physicians Associates.
Parameters:
(1) weight at birth as percentile
(2) length at birth as percentile
(3) relative macrocephaly at birth (occipitofrontal diameter >= 1.5 SD above birth weight)
(4) catch-up growth during postnatal course
(5) head circumference
(6) cognitive development (attendance at regular school)
(7) asymmetry of face, body or limbs
(8) triangular shaped face
(9) high or bossing forehead
(10) other findings (small chin, thin lips, down-turned corners of the mouth, late closure of fontanelle)
(11) clinodactyly fifth finger
(12) genital abnormalities (cryptorchidism, hypospadias)
(13) other (brachymesophalangy, syndactyly toes, inguinal hernia, pigmentary change)
|
Parameter
|
Finding
|
Points
|
|
weight at birth
|
> 10th percentile
|
0
|
|
|
<= 10th percentile
|
1
|
|
length at birth
|
> 10th percentile
|
0
|
|
|
<= 10th percentile
|
1
|
|
relative macrocephaly at birth
|
absent
|
0
|
|
|
present
|
1
|
|
catch-up growth
|
absent
|
1
|
|
|
present
|
0
|
|
head circumference
|
normal
|
1
|
|
|
abnormal
|
0
|
|
cognitive development
|
normal
|
1
|
|
|
abnormal
|
0
|
|
asymmetry of face, body or limbs
|
absent
|
0
|
|
|
present
|
3
|
|
triangular shaped face
|
absent
|
0
|
|
|
present
|
1
|
|
high or bossing forehead
|
absent
|
0
|
|
|
present
|
1
|
|
other facial findings
|
absent
|
0
|
|
|
present
|
1
|
|
clinodactyly of fifth finger
|
absent
|
0
|
|
|
present
|
1
|
|
genital abnormalities
|
absent
|
0
|
|
|
present
|
1
|
|
other features
|
absent
|
0
|
|
|
present
|
1
|
total score =
= SUM(points for all 13 parameters)
Interpretation:
• minimum score: 0
• maximum score: 15
• A score >= 8 was associated with Silver-Russell Syndrome.
