Renal disease in the Russell-Silver syndrome

Phenotypic and genetic analysis of the Silver‐Russell syndrome

“…Of these, 50 were incompletely (1975) claimed they had 39 patients with SRS, but they described the physical findings of only eight in a previous paper (Tanner & Ham 1969)). Four cases were misdiagnosed, including a mother and daughter (Scott 1935, Gorlin & Meskin 1962, Vestermark 1970) (Case 2) and six had chromosomal abnormalities (Ferrier et al 1964, Hook & Yunis 1965, Tulinius et al 1972, Haslam et al 1973, Severi et al 1974, Chauvel et al 1975 1.3 %). The frequency of these malformations is so low that it is difficult to attribute any significance to them.…”

Sonographic appearance of bladder malacoplakia

“…Our patient had a history of Russell-Silver syndrome, an autosomal dominant syndrome in which x-linked transmission has also been suggested in some families [4]. The condition is marked by short stature, mental retardation, and precocious puberty along with deficiencies in pituitary and adrenal cortical hormones.…”

Russell–Silver syndrome associated with low conus medullaris

“…reported abnormal excretory urograms, unilateral chronic pyelonephritis, unilateral ureteropelvic obstruction, severe vesicoureteral reflux, and horseshoe kidney. [ 9 10 ] These clinical features occur frequently in VATER syndrome which has a known propensity for tethered cord syndrome. We did not diagnosed any structural anomaly of the urinary system in our patient, but urodynamic study showed overactive detrusor and detrusor-sphincter dyssynergia.…”