The first case of Silver-Russell syndrome accompanied by linea alba hernia in China.
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, a 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.
Wong
K F
KF
Department of Pediatrics, First Affiliated Hospital, Jinan University, West 613, Huangpu Dadao Xi, Guangzhou 510632, Guangdong Province, China. wkfkelvin2004@yahoo.com.cn
Wong
W W
WW
Li
B X
BX
Song
Y Z
YZ
D002681:China; D006555:Hernia, Ventral / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D017568:Rectus Abdominis / Q000002:abnormalities; D056730:Silver-Russell Syndrome / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology