Orthopade. 2012 Jan; 41(1): 75-84
Schreiner S, Ganger R, Grill F

Congenital dislocation of the knee (CDK) is a rare deformity presenting itself either as an isolated idiopathic entity or in the context of syndromes like arthrogryposis, myelodysplasia or Larsen syndrome. Patients can be diagnosed clinically after childbirth based on hyperextension of the knee. Confirmation of the diagnosis is done by X-ray or sonography. Many theories concerning the pathogenesis have been proposed since CDK was described; according to recent literature fibrosis and contracture of the m. quadriceps is the most likely reason. Therapy should start as soon as possible after birth, conservatively using redressing casts or operatively in syndromal conditions aiming for reduction. The prognosis concerning re-dislocation is benign; a good outcome was shown for idiopathic CDK.

Spine (Phila Pa 1976). 2011 Oct 29;
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP

ABSTRACT:: Study Design: Focused review of the literature.Objectives: Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.Summary of Background Data: Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. These problems can be overlooked among the other systemic issues more familiar to clinicians and radiologists evaluating these syndromes. It is imperative that spine specialists understand the relevant issues associated with these particular syndromes.Methods: The literature was reviewed for cervical spine issues in 10 specific syndromes.The information is presented in the following order: First, the identification and treatment of mid-cervical kyphosis in Larsen syndrome and Diastrophic Dysplasia. Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, Pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, Spondyloepiphyseal Dysplasia Congenita, and Kniest Dysplasia. Finally, the chin-on-chest deformity of fibrodysplasia ossificans progressiva.Results: Mid-cervical kyphosis in patients with Larsen syndrome and Diastrophic Dysplasia needs to be evaluated and imaged often to track deformity progression.. Upper cervical spine instability in Down syndrome is most commonly due to ligamentous laxity at C1-2 and occiput-C1 levels. Nearly 100% of patients with 22q11.2 Deletion syndrome have cervical spine abnormalities, but few are symptomatic. Patients with pseudoachondroplasia and Morquio syndrome have C1-2 instability related to odontoid dysplasia (hypoplasia and os odontoideum). Morquio patients also have soft-tissue glycosaminoglycan deposits, which cause stenosis and lead to myelopathy. Severely affected patients with Spondyloepiphyseal Dysplasia Congenita are at high risk of myelopathy due to atlantoaxial instability in addition to underlying stenosis. Kniest syndrome is associated with atlantoaxial instability. Cervical spine anomalies in Goldenhar syndrome are varied, and can be severe.Fibrodysplasia Ossificans Progressiva (FOP) features severe, deforming heterotopic ossification that can become life-threatening.Conclusions: It is important to be vigilant in the diagnosis and treatment of cervical spine anomalies in patients with genetic syndromes.

Clinics (Sao Paulo). 2011; 66(7): 1295-9
Kaissi AA, Ganger R, Klaushofer K, Grill F

Spec Care Dentist. 2010 Nov-Dec; 30(6): 255-60
Sajnani AK, Yiu CK, King NM

Larsen syndrome is a rare genetic disorder characterized by multiple dislocations of the large joints and characteristic craniofacial abnormalities. It exists in both a severe autosomal recessive form and a mild autosomal dominant variety. To date, only three authors have reported oral findings for this syndrome. This paper describes an 8-year-old Chinese boy with Larsen syndrome who had advanced periodontitis. The need for periodontal therapy and regular monitoring of such patients has been highlighted.

Am J Med Genet A. 2010 Oct; 152A(10): 2543-9
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A

We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series of 24 patients in 23 families. The diagnostic hypothesis prior to molecular analysis had been: Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (CDMD "Megarbane type"; two cases), Desbuquois syndrome (one case), and spondylo-epiphyseal dysplasia (one case). In spite of the different diagnostic labels, the clinical features in these patients were similar and included dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The most useful radiographic clues were the changes of the lumbar vertebrae. Twenty-four different CHST3 mutations were identified; 16 patients had homozygous mutations. We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. The incidence of CHST3 deficiency seems to be higher than assumed so far. The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome.

Indian J Pediatr. 2010 Jul; 77(7): 819-20
Kulkarni ML, Basha MH, Hegade S, Kumarasamy TA, Kulkarni AM

Orthopade. 2010 Apr; 39(4): 444-8
Müller M, Strecker W

A 59-year-old woman with bilateral congenital knee dislocation due to Larsen syndrome was treated by arthroplasty. To prevent neurovascular deficiency and major loss of bone substance, a continuous joint distraction was performed by unilateral external fixation. After a period of 25 days and a leg lengthening of 4.5 cm, a constrained total knee endoprosthesis was implanted. Both operations and their postoperative courses were free of complications. A previously planned lengthening of the Achilles tendon was unnecessary.

Paediatr Anaesth. 2009 Dec; 19(12): 1250-1
Shukry M, Mayhew J

Cases J. 2009; 2: 6729
Al Kaissi A, Altenhuber J, Grill F, Klaushofer K

Cervical kyphosis may be potentially the most serious and, indeed, a life-threatening manifestation of Larsen syndrome because of the impingement on the spinal cord at the apex of the kyphosis. Abnormalities of the spine, specifically cervicothoracic kyphosis requires specific attention and management.We report on a 3-year-old boy who presented with full clinical and the radiographic features of Larsen syndrome. There was significant vertebral body hypoplasia of C5/7 combined with spina bifida occulta from C1/T2, resulting in congenital cervical instability and kyphosis.Congenital or developmental cervical kyphosis is a serious orthopaedic abnormality, which is associated with several syndromic associations such as Larsen syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, and neurofibromatosis.

Paediatr Anaesth. 2009 Sep; 19(9): 927-8
Ghaffaripour S, Ghahramaninejad F, Shahbazi Sh

Spine (Phila Pa 1976). 2009 Aug 1; 34(17): 1815-27
Campbell RM

A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome.The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients.Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment.The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized.Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs.For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

Cases J. 2009; 2(1): 45
Al Kaissi A, Radler C, Klaushofer K, Grill F

ABSTRACT: INTODUCTION: Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome. CASE PRESENTATION: We report on a 2-year- old boy from Slovakia was born to non-consanguineous parents. Prenatal and postnatal growth parameters were normal. Clubfoot and genu valgum were the most prominent orthopaedic abnormalities. Radiographic documentation showed bone age of 4 years and 8 months associated with the appearance of accessory ossification centers. Monkey wrench appearance of the proximal femora was a characteristic finding associated with significant vertebral changes. CONCLUSION: The major skeletal changes in our patient include advanced carpal ossification, monkey wrench appearance of the proximal femora associated with significant vertebral changes. No joint dislocations, no hitchhiker thumbs and or dysmorphic facial features were present. The normality of his growth, facial features, intelligence, and palate as well as the characteristic radiographic features were to certain extent in favour of a mild form of Desbuquois dysplasia. Additional laboratory findings allowed us to exclude other disorders with abnormal metabolic parameters such as mucopolysaccharoidosis.