A Twenty Month-Old Boy With Russell-Silver Syndrome (RS Sy)

Background: The alterations in a telomeric imprinting region 1 (ICR 1) in 11p15 chromosome and a maternal uniparental disomy of chromosome 7 (upd(7)mat) may not be detected by molecular analyses in approximately 50% patients with characteristic features of Russell-Silver syndrome.

Patient and Methods: A twenty month-old boy with triangular shaped face, midface hypoplasia, prominent forehead, wide, but thin mouth, small chin, low positioned ears, occipitofacial circumference (OFC) (-2.3 SDS) had low weight (-3.75 SDS), short stature (-4.6 SDS) and body asymmetry with bigger left side and longer left limbs for 1cm. The boy was born with intrauterine growth retardation (IUGR), birth weight (-4.8 SDS) and birth length (-1.7 SDS), in 38th gestational week (GW). The diagnostic assessment was achieved by clinical features, ultrasound survey, hormonal and molecular analyses.

Results: The IGF1, IGF BP3 and thyroid hormones were within reference range. The tests for pituitary reserve revealed a peak of 8.64ng/ml. The ultrasound survey revealed hypoplastic right kidney and mild hypertrophy of the myocard. Karyotype was 46, XY. Multiplex ligation probe amplification (MLPA) and a methylation analysis (MS-MLPA) did not detect hypomethilation of the ICR1 or a upd(7)mat. The growth hormone treatment is planned to be commenced.

Conclusions: Herein we present a twenty month-old IUGR born boy with typical clinical features of Russell-Silver syndrome. The molecular analyses unfortunately did not confirm hypometilation in the critical region of chromosome 11p15 or maternal uniparental disomy of chromosome 7.