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.