However, when the mutant tissues were tested in a cyclic strain experiment, they became more lax with an increasing number of cycles, which is analogous to the progressive joint laxity observed in PSACH-MED patients (2).
The use of patellar tendon should be avoided for the potential risk of premature physeal closure and subsequent tibial recurvatum (Meller et al. 2008), moreover it may interfere with the delicate changes of the extensor mechanism during growth (progressive reduction of laxity, reduction of Q angle, lower limb torsional changes and gradual patella lowering).
Other potential causes of bearing dislocation include bony or cement impingement, tibial component malrotation, underestimated anterior cruciate ligament stability or general joint laxity, and progressive neurologic disorders (Goodfellow and O'Connor 1992, Murray et al. 1998, Ackroyd 2003).
Ehlers-Danlos syndrome musculocontractural type 1, which is characterized by progressive joint and skin laxity, multiple congenital contractures, progressive multi-system complications, and characteristic craniofacial features, is caused by mutations in CHST14 encoding D4ST1 (p.Lys69X, p.Pro281Leu.p.Cys289Serp.Tyr293Cys, p.Tyr293Cys, and p.Glu334GlyfsX107) [ 97– 102].
Is progress necessarily progressive?
Here, we report on two sisters compound heterozygous for two novel B3GALT6 mutations that presented with severe short stature and progressive kyphoscoliosis, joint hypermobility and laxity, hyperextensible skin, platyspondyly, short ilia, and elbow malalignment.
Patients with BM also exhibit the characteristic combination of initial joint laxity followed by progressive contractures (3, 10).
Platform: Research Genetics (Invitrogen) - GF211 Microarray Filter Mendelian disorder: Marfan syndrome (MFS, OMIM #154700) Disease gene: fibrillin-1 precursor (FBN1, OMIM *134797) Phenotype: variable skeletal abnormalities, tall stature, disproportionately long limbs and digits, joint laxity, eye anomalies and progressive cardiovascular problems.
Platform: Agilent-012391 Whole Human Genome Oligo Microarray G4112A MFS Mendelian disorder: Marfan syndrome (MFS, OMIM #154700) Disease gene: fibrillin-1 precursor (FBN1, OMIM *134797) Phenotype: variable skeletal abnormalities, tall stature, disproportionately long limbs and digits, joint laxity, eye anomalies and progressive cardiovascular problems.
Deficiency in humans has profound manifestations with progressive neurodegeneration, mental retardation, peripheral neuropathy, joint laxity and cataracts.
