The Endo-Model rotating-hinge prosthesis is preferably indicated as a primary implant in patients with advanced axial deviation of the lower limbs or unstable knees with severe bone defects. Outcomes were studied in 111 knees, operated in a three-year period; the mean followup was 28 months. Joint balance enhancement and limbs mechanical axis correction were achieved after surgery. There were 6 deep infections and 16 patients referred postoperative anterior knee pain. WOMAC index scores disaggregated by gender and BMI showed better outcomes in obese patients (specifically, those with a BMI of 35–40 kg/m2) and in men. Although the lack of a control group did not allow definite conclusions and despite a nonnegligible complication rate, our results reveal that the Endo-Model total knee arthroplasty can be a useful tool to deal with severe and morbid obese patients affected of severe gonarthrosis associated with marked axial deviations, ligament instability, or bone defects.

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Array was normal male. Turbo WES revealed a homozygous pathogenic c.964-1G>C mutation in the 7-dehydrocholesterol reductase (DHCR7 )gene known to cause the autosomal recessive Smith-Lemli-Opitz syndrome. The parents decided for termination of the pregnancy. Obduction of the fetus showed an ambiguous gender with a vagina and micropenis, previously described facial dysmorphism, anomalies of the extremities and heart, partial agenesis of the corpus callosum and bilateral hypoplastic kidneys. Microscopy of the gonads showed male gonads with reduced number of tubuli seminiferi.The best diagnostic clues for SLOS is the combination of early onset severe FGR, polydactyly / syndactyly, genital ambiguity and various anomalies in brain, heart and kidneys. Identification of mutations in DHCR7 in affected pregnancies allows carrier detection and future preimplantation and prenatal diagnosis. EP04.13Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF-PCR