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Wong KF, Wong WW, Li BX, Song YZ
Correspondence: Dr Wong Kiu Fung, firstname.lastname@example.org
A 10-month-old Chinese boy presented with delayed motor development for seven months. Blood and biochemistry investigations revealed no abnormalities. The physical examination showed poor postnatal growth (below -2 standard deviation from the mean at diagnosis), preservation of the occipitofrontal head circumference with delayed closure of the anterior fontanel, classical triangular facial phenotype, asymmetry of the lower extremities and other characteristic features that fulfil the diagnostic criteria of Silver-Russell syndrome clinically. As PubMed and web searches revealed no similar findings, we believe that this may be the first case of Silver-Russell syndrome with linea alba hernia and pes varus reported in China, and possibly the world. The genetic deficit responsible for this case is still under investigation.
Keywords: Silver-Russell syndrome, motor developmental delay, delayed closure of anterior fontanel, linea alba hernia, pes varus
Singapore Med J 2010; 51(1): e9-e11