Description

Lai et al used a set of physical criteria for diagnosing a patient with Silver-Russell Syndrome (SRS). The authors are from Prince of Wales Hospital in Hong Kong, Institute of Child Health in London and Middlesex Hospital.


Diagnostic criteria for Silver-Russell Syndrome requires >= 3 of the following:

(1) low birth weight (at least 2 standard deviations below population mean adjusted for maternal stature, gender, ordinal position of child and gestation)

(2) short stature at the time of diagnosis (at least 2 standard deviations below the population mean)

(3) craniofacial appearance (triangular-shaped face with high forehead and small jaw; prominent nasal bridge; downturned corners of the mouth; well-demarcated philtrum; low set ears)

(4) limb, body and/or facial asymmetry

(5) clinodactyly


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