A clinical study of 35 cases of Silver-Russell syndrome / 中华内分泌代谢杂志

ABSTRACT

Objective To analyze the clinical features of 35 patients with Silver-Russell syndrome (SRS) in Beijing Children's Hospital in recent 6 years,and to recognize the clinical manifestations and improve the diagnosis of the disease.Methods The diagnostic criteria of SRS were studied retrospectively,the differences among 3 different diagnostic criteria were compared.Results Thirty-five SRS patients were diagnosed by means of 3 criteria,over a period from 2006 to 2012.There were 23 males and 12 females,with age range 0.08 ～ 12.15 yr.77 ％ of cases met the three criteria,97％ met two of the three criteria.There were dwarfism in 33 cases (94.2％),genital abnormalities in 1 case (2.9％),and asymmetry of limbs in 1 case (2.9％).The clinical characteristics with the frequencies accounting for over 80％ included short stature (average height-3.61 SDS),leanness (body mass index ＜-2.11SDS),bone dysmorphism including triangular face,irregular teeth,asymmetry of limbs,clinodactyly of fifth finger,and bone age obviously lagged behind.60％ of the cases showed bone age lagging behind more than 1 year.Height lagging behind was more obviously then bone age.Conclusions The diagnosis of SRS is mainly based on Clinical manifestation,laboratory and biochemical examinations are of no avail.There is a high coincidence with the 3 different diagnostic criteria.Clinical features in more than 80％ patients with SRS are short stature,craniofacial triangular dysmorphism,irregular teeth,limbs asymmetry and fifth finger clinodactyly,and mild lagging behind of bone age.