2025 – PAGE 272 – GENETICS & INHERITED DISEASES
(DOUBLE TAKE) RUSSELL-SILVER SYNDROME (AKA SILVER RUSSELL SYNDROME)
Russell-Silver syndrome (AKA Silver Russell syndrome) is a type of dwarfism. Characteristics include growth retardation, clinodactyly, a small chin that gives a TRIANGULAR FACE, and hypospadias. Patients can also have hemihypertrophy of the head, trunk, arms, or legs.
IMAGE: www.pbrlinks.com/RUSSELLSILVER1
IMAGE: www.pbrlinks.com/RUSSELLSILVER2
MNEMONIC: Imagine a streetfighter or cage-fighter named RUSSELL. RUSSELL’s face is an asymmetric TRIANGLE (small chin with facial hemihypertrophy). His face is made out of SILVER, and this makes it easy for him to head-butt people during fights. Also, every time RUSSELL fights, he sprays yellow PEE all over the ground (because of hypospadias) and makes his opponents slip and fall. With tricks like that, of course he’s going to win every time!
POTTER’S SYNDROME
Potter’s syndrome is characterized by poor production of urine in utero. Due to the lack of fluid (oligohydramnios), babies are born with multiple problems, including pulmonary hypoplasia and club feet. Other findings may include excess/baggy skin that looks like a loose-fitting glove and fetal membranes with yellowish nodules.
IMAGE: www.pbrlinks.com/POTTERS1
MNEMONIC: Imagine that you are a POTTER. You forget a clay POT on the porch. You find it weeks later with only a few drops of water (oligohydramnios) at the bottom of it, and it now has nasty YELLOW NODULES along the inside wall. You’re so disgusted that you can BARELY BREATHE (pulmonary hypoplasia). You put on a couple of GLOVES (glove-like skin), grab two CLUBS (club feet), and smash the nasty thing to pieces!
- (TRIPLE TAKE) VACTER-L (AKA VACTERL or VATER) ASSOCIATION: VACTER-L (AKA VACTERL or VATER) syndrome is an acronym. VACTERL stands for Vertebral anomalies, Anal atresia/imperforate anus, Cardiac defects (especially VSD), Tracheoesophageal fistula, Radial hypoplasia, Renal anomalies, and Limb abnormalities. These children have a normal IQ.
- PEARL: The patient may present with a single umbilical artery.
- MNEMONIC: Imagine Darth VACTER cutting off his own son’s ARM (radial hypoplasia and limb abnormalities) and then using the ARM as a light saber to create ANAL ATRESIA and a TE Fistula.
- IMAGE: www.pbrlinks.com/VACTERL1
- IMAGE: www.pbrlinks.com/VACTERL2
(DOUBLE TAKE) PRUNE BELLY SYNDROME
Prune belly syndrome results in weak abdominal musculature (due to deficient abdominal muscles), cryptorchidism (undescended or missing testicles), and urinary tract anomalies. The urinary tract anomalies include vesicoureteral reflux (VUR), posterior urethral valves (PUV), and renal dysplasia. The renal anomalies often result in hydronephrosis, oligohydramnios, and pulmonary hypoplasia. Children have a poor prognosis, and, unfortunately, many die within a few months.
PEARL: Look for a description of a newborn with weak abdominal muscles, “undescended testes” (may actually be missing), and a midline abdominal mass (distended bladder or hydronephrosis).