An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid

Abstract

Silver-Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, facial dysmorphia, and limb asymmetry. We report the case of a patient diagnosed with SRS on a cluster of clinical arguments, associated with thyroid dysgenesis. We report the case of a 16-year-old patient diagnosed with SRS based on the following clinical findings: hypotrophy at birth, severe stature-ponderal delay (-4DS), hemihypertrophy of the body, macrocephaly, and prominent forehead with severe psychomotor and intellectual delay (IQ < 70). The Netchine-Harbison score is rated at 6/6, hence the performance of a molecular study, the results of which are in progress. Biological and radiological exploration has objectified deep hypothyroidism on a sublingual thyroid for which he was treated with a hormone replacement therapy with L-thyroxine. This association has never been reported in the literature. We report through this case the interest in a morphological assessment in search of other anomalies, which can be associated to improve the management of SRS.

Congenital growth disorder: Silver Russell syndrome - A case report

“…Silver Russell Syndrome (SRS) was first described in 1953 [1,3]. The disorder is clinically and genetically diverse and various modes of inheritance have been estimated involving chromosomes 7, 8, 15, 17 and 18, however, only chromosomes 7 and 17 have been consistently implicated in clinical diagnosis of SRS and SRS like disorders [3].…”

“…7-10% of patients with this SRS have a defect in a gene called the maternal Uniparental Disomy (UPD) for chromosome seven and in 35%-50% have hypomethylation of the Imprinted Control Region 1 (ICR1) at 11p15.5 [3,7,8]. It combines severe intrauterine restriction, postnatal failure to thrive, craniofacial dysmorphia, and limb asymmetry [1]. The musculoskeletal manifestations in Russell silver syndrome were studied in 25 cases.…”

“…Silver Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, craniofacial dysmorphia and limb asymmetry [1]. It may combine various disorders with clinically related phenotypes or may result from disruption of a single biochemical or endocrinological pathway [1][2][3].…”