Endocrine Abstracts

Silver-Russell syndrome (SRS) is a rare syndrome. It was first reported by Silver, Russel and al, who described children with low birth weight, postnatal statural delay, peculiar facies and asymmetry of the body. We report the case of two sibling children born to non-consanguineous parents, admitted to our level for the exploration of severe staturo-weight retardation in relation to marked intrauterine growth retardation. The first child is a 04-year-old girl, born at term. It currently has a statural delay at -5DS/Tm,-4DS/Target size, underweight with BMI 10kg/m2, and relative macro-cephaly. The second, his brother, aged 2 and a half, born prematurely at 34 WA. It has severe stunted growth dysharmonious with current size at –7DS, – 6DS /Target size and underweight: BMI at 14kg/m2; An asymmetry of the lower limbs is noted (difference of 0.5 cm), as well as a fontanelle still palpable. Examination of the external genitalia finds a poorly developed scrotum, a penis at 5.5 cm and bilateral cryptorchidism of latero-penile seat confirmed on ultrasound. Both children have a language delay, eating difficulties such as anorexia and a dysmorphic syndrome made of triangular facies, a prominent forehead, micrognatism, fragile, irregular teeth and a mouth facing downwards. The biological and hormonal investigations are without abnormalities. Standard X-rays do not reveal bone malformations. The genetic study is ongoing. SRS is a rare genetic disease. The diagnosis is often clinical based on the Netchine–Harbison score, and on the presence of additional signs described in this syndrome but the genetic test can confirm this diagnosis in 60% of cases. The etiology remains, however, unknown in a good number of patients. Cases of inter-sibling recurrence are very little described and seem to be most often associated with mutations in the center of the parental imprint. Genetic counseling in this case is of interest.