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Silver-Russell syndrome: a case report 
 
Silver-Russell syndrome: a case report
  Bing-Ping Qiu, Chang-Hong Shi
 [Abstract] [Full Text] [PDF]   Pageviews: 18055 Times
   

Background: We present a case of an 8-year-old girl with a short stature. She had features of Silver-Russell syndrome (SRS) including asymmetrical body, maldevelopment of the fifth finger clinodactyly, small face, broad forehead, and delayed bone age. She had been diagnosed as having intrauterine growth retardation after birth, and feeding problems had been noted in her infancy. Psychomotor development was delayed.

Methods: The patient underwent physical examina-tion, X-ray examination, and laboratory examination. Treatment with recombinant human growth hormone (rhGH) and gonadotropin releasing hormone analogue (GnRHa) was given, and the patient was followed up.

Results: The imaging of the legs revealed that her left leg was 2 cm shorter and the circumference of the upper left leg was larger than the right one. During the follow-up for 2 years, her growth accelerated with mature breast and pubic hair. The levels of blood follicle stimulating hormone (FSH), luteinizing hormone (LH) and estradiol (E2) increased to the levels of adolescence.

Conclusions: This patient met the clinical criteria for SRS, and also with sexual precosity, she could be treated with rhGH and GnRHa, but the final height would not be ideal.

Key words: Silver-Russell syndrome; asymmetry; intrauterine growth retardation
 
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World Journal of Pediatric Surgery

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