summary Beckwith-Wiedemann Syndrome is a congenital condition caused by a mutation in chromosome 11p15.5 that presents with hemihypertrophy, macroglossia, abdominal wall defects, and hypoglycemia. Diagnosis is made using physical examination and genetic testing. Treatment involves a multidisciplinary approach to address orthopedic manifestations, abdominal abnormalities, and overgrowth. Epidemiology Incidence 1 in 13,700 births Demographics 1:1 male to female Etiology An overgrowth syndrome characterized by spectrum of clinical manisfestations, highlighted by: major criteria: overgrowth abdominal wall defects, incl. omphalocele macroglossia or large tongue minor criteria hemihypertrophy (10-20%) ear anomalies neonatal hypoglycemia nephromegaly Pathophysiology pancreatic islet cell hypertrophy causes repeated bouts of infantile hypoglycemia resulting in spasticity Genetics inheritance sporadic in 85% of cases autosomal dominant with incomplete penetrance in remaining 15% mutation chromosome 11p15.5 Associated conditions orthopaedic manifestations hemihypertrophy medical conditions patients have a predisposition for embryonal tumors, i.e. Wilm's tumor, and should be screened with US every 3-6 months until 5-8 years of age Presentation Physical exam macroglossia midface hypoplasia infraorbital creases anterior linear ear lobe creases visceromegaly hemihypertrophy Imaging Radiographs recommended views comparison view of affected limb with contralateral limb Treatment Operative epiphysiodesis indications growth arrest of the affected limb
QUESTIONS 1 of 1 1 Previous Next This is an AAOS Self Assessment Exam (SAE) question. Orthobullets was not involved in the editorial process and does not have the ability to alter the question. If you prefer to hide SAE questions, simply turn them off in your Learning Goals. (SAE07PE.29) A 2-year-old child is being evaluated for limb-length and girth discrepancy. As a newborn, the patient was large for gestational age and had hypoglycemia. Current examination shows enlargement of the entire right side of the body, including the right lower extremity and foot. The skin shows no abnormal markings, and the neurologic examination is normal. The spine appears normal. Radiographs confirm a 2-cm discrepancy in the lengths of the lower extremities. Additional imaging studies should include QID: 6089 Type & Select Correct Answer 1 bone age of the left wrist. 3% (14/504) 2 MRI of the spine. 5% (26/504) 3 MRI of the brain. 3% (16/504) 4 renal and abdominal ultrasonography. 82% (414/504) 5 hip ultrasonography. 5% (25/504) L 1 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic