ESPE Abstracts

Background: Silver Russell Syndrome(SRS) is a rare heterogeneous genetic disorder, which is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell silver syndrome have syndromic facial appearance as well as some other common clinical features. The last guideline for diagnosis of SRS is Netchine– Harbison clinical scoring system that is clinical scoring system and followed by molecular evaluation.

Objective: In Silver Russell Syndrome, evaluating loss of methylation on 11p15 and maternal uniparental disomy for chromosome 7 (upd(7)mat) are most common molecular changes which can be assessed in such patients.In our first phase of our study we evaluated Netchine– Harbison clinical scoring system(NH-CSS) for children with clinical features of SRS . In the second phase we evaluated molecular MLPA testing of methylation on 11p15 region in 15 patients with positive diagnostic NH-CSS criteria.

Patients: This case series has been approved by Mashhad University of medical sciences committee, Mashhad, Iran. Every children who were presented with clinical diagnosis of Russell silver syndrome and were younger than 20 and older than 2 years old were referred to pediatric endocrinology department for further evaluations. Among children who were referred, only 16 patients were confirmed to have Russell silver syndrome clinically according to Netchine–Harbison clinical scoring system. According to this criteria, clinical diagnosis has been made if a children scores at least 4 of 6 clinical criteria's including: small for gestational age, postnatal growth failure, relative macrocephaly at birth, body asymmetry, protruding forehead and feeding difficulties and/or low body mass index. Other possible differential diagnosis has been excluded according to children features and those who were not willing to undergo molecular evaluation or disagree for filling the informed consent form were excluded. Total number of 16 children agreed to enrolled in present study and undergo molecular evaluation.

Result: From 16 patients who had diagnostic SRS in the basis of NH-CSS criteria, 5 cases had positive MLPA testing(31.25%), that is compatible with other studies in different regions(30-60%). It seems that NH-CSS criteria is a perfect and appropriate guideline for initial evaluation of those short stature patients who are suspected of SRS.( The molecular analysis article has been approved in iranian journal of pediatric and it will be published soon).