Introduction A rare genetic disorder with characteristic findings of ligamentous hyperlaxity, abnormal facial features, and multiple joint dislocations dislocations include hips knees (usually bilateral) shoulders elbows (radial head) Epidemiology estimated to be 1 in 100,000 live births Genetics autosomal dominant (AD) and recessive (AR) inheritance patterns AD linked to a mutation of the gene encoding filamin B AR linked to carbohydrate sulfotransferase 3 deficiency Associated conditions orthopaedic manisfestations hand deformities scoliosis clubfeet cervical kyphosis may present with extremity weakness secondary to myelopathy caused by hypoplasia of the cervical vertebrae Presentation Symptoms patients have normal intelligence Physical exam hypotonia uncommon but may be due to cervical compression abnormal facial features flattened nasal bridge hypertelorism prominent forehead hands long cylindrical fingers that do not taper wide distal phalanx at the thumb elbows bilateral radial head dislocations may be present knees look for bilateral knee dislocations foot deformities equinovarus eqinovalgus clubfeet Imaging Radiographs recommended AP and lateral of cervical spine during first year of life AP pelvis and lateral of hips ultrasound if less than 3 months findings hypoplasia of vertebrae cervical kyphosis with subluxation hip dislocation MRI recommended cervical kyphosis myelopathy Treatment Cervical kyphosis operative posterior cervical fusion indications patients with significant kyphosis but no neurologic deficits recommended to be performed during the first 18 months of life to prevent neurological deterioration anterior/posterior cervical decompression and fusion indications cervical kyphosis with neurologic deficits Hip dislocations nonoperative closed reduction under anesthesia indications may be attempted but rarely successful operative open reduction of hip dislocation indications failed closed reduction decreased range of motion secondary to contractures around hip unilateral hip dislocation bilateral hip dislocation controversial if considering, perform early and only once Knee dislocations nonoperative closed reduction and casting indications may be attempted but rarely successful operative open reduction with femoral shortening and collateral ligament excision indications knee dislocations that remain unstable after closed reduction
QUESTIONS 1 of 1 1 Previous Next PASS Peak is our new Personalized Adaptive Learning System. The beta version will be available to VC members free for a limited time. Click here for more information on PASS Peak. PASS Peak is our new Personalized Adaptive Learning System. The beta version will be available to VC members free for a limited time. Click here for more information on PASS Peak. (OBQ04.201) A 5-year-old boy has a history of bilateral dislocated radial heads, bilateral knee dislocations, and flattened facies. What other important orthopaedic-related condition must be checked in this patient? Review Topic QID:1306 1 congenital vertical talus 19% (94/504) 2 congenital trigger thumb 4% (19/504) 3 tibial hemimelia 12% (60/504) 4 cervical kyphosis 54% (270/504) 5 congenital pseudoarthrosis of clavicle 12% (60/504) Select Answer to see Preferred Response PREFERRED RESPONSE 4 Larsen’s syndrome is characterized by multiple dislocated joints, including hip, knee, elbow/radial head, foot deformities, scoliosis, and potentially lethal cervical kyphosis. It is important to obtain screening radiographs of the cervical spine in these patients to identify kyphosis and prevent neurologic complications. Progressive kyphosis may require cervical fusion. In addition to the orthopaedic manifestations, patients can also have laryngeal or tracheal problems, lesions of the heart valves, or aorta, and hyperelasticity syndromes that present as hypotonia. References: pdf Larsen's syndrome: review of the literature and analysis of thirty-eight cases. Laville JM, Lakermance P, Limouzy F J Pediatr Orthop. 1994 Jan-Feb;14(1):63-73. PMID: 8113375 (Link to Abstract) Laville, JPO 1994 Vote for CME Authors: Paul D. Kim MD, Derek Moore MD, Eric Shirley MD, Please rate question. Average 3.0 of 21 Ratings Question COMMENTS (2) Please login to add comment.