2025 – PAGE 268 – GENETICS & INHERITED DISEASES
BECKWITH-WIEDEMANN SYNDROME
Beckwith-Wiedemann syndrome findings include MACROglossia, MACROsomia (large body), midline abdominal wall defects, and evidence of hemihypertrophy (AKA hemihyperplasia). Patients may also have creases in their ear lobes. The midline defect may be an omphalocele (bowel through the umbilicus), umbilical hernia or hypospadias. Babies will often have neonatal hypoglycemia. Children are at increased risk for malignancies, especially Wilms Tumor. Look for a picture of a patient with a big body, big tongue, and some type of overgrowth symptom (unilateral overgrowth of a leg, face, arm, etc.).
PEARL: It’s the most common overgrowth syndrome in infancy, and it would be VERY, VERY worthwhile to learn about it.
IMAGE: www.pbrlinks.com/BECKWIEDEMANN1
IMAGE: www.pbrlinks.com/BECKWIEDEMANN2
IMAGE: www.pbrlinks.com/BECKWIEDEMANN3
MNEMONIC: Replace the “W’s” with “V’s”. Rename it BeckVvith-VvIDE mouth. The different sized V’s are to remind you of the hemihypertrophy (often seen on the ABP exam). The “Vvide mouth” is needed to accommodate the large tongue in this very small head!
(DOUBLE TAKE) KLIPPEL-TRENAUNAY SYNDROME
Klippel-Trenaunay syndrome is associated with AV fistulae, causing skeletal or limb OVERGROWTH (hemihypertrophy). Patients with Klippel-Trenaunay have Port Wine Stains and overgrowth of tissue, bones, and soft tissue. Look for unilateral limb overgrowth and CHF.
- IMAGE: www.pbrlinks.com/KLIPPELTRENAUNAY1
- (DOUBLE TAKE) PEARL: Hemihypertrophy images on the pediatric exam should very quickly clue you in to a few disorders. Highest on your differential should be Beckwith-Wiedemann Syndrome, then Klippel-Trenaunay, then Russell-Silver Syndrome, and then possibly Proteus Syndrome.
- MNEMONIC: From now on, say CRIPPLE-T. Think of these patients as having a CRIPPLING disorder in which they have one HUGE leg that prevents them from getting around.
- NAME ALERT: KLIPPEL-FEIL SYNDROME. This is a completely different disorder. Look for a Torticollis-like photograph (due to fused cervical vertebrae).
PROTEUS SYNDROME
Proteus syndrome is a rare condition that is highly variable but can also cause hemihypertrophy. It is probably low-yield for the pediatric boards, but as a mnemonic, let’s rename it “HEMIHYProteus” to remind us of the HEMIHYPertrophy that may be seen.
PIERRE-ROBIN SYNDROME (AKA PIERRE-ROBIN SEQUENCE)
In Pierre-Robin syndrome (AKA Pierre-Robin sequence), there is a triad of cleft palate, micrognathia (small chin), and glossoptosis (downward displacement or retraction of the tongue because of the patient’s relatively small chin, not because of macroglossia). Patients may also have extremity (syndactyly or clinodactyly), spine, and CNS issues (delay or seizures). Patients are at risk for difficulty breathing and developing cor pulmonale (right-sided heart failure) within the first year of life.
IMAGE: www.pbrlinks.com/PIERREROBIN1
IMAGE: www.pbrlinks.com/PIERREROBIN2
MNEMONIC: Remember the ROBIN from the PINK PALATE (cleft deformities) mnemonic? With the PEAR and CROUTONS? Now imagine that ROBIN has such a SMALL JAW that the CURIOUS MONKEY eats all the food while the ROBIN struggles to get any food at all.