Prosthetic overhang is the most effective way to prevent scapular conflict in a reverse total shoulder prosthesis

Methods An average and a "worst case scenario" shape in A-P view in a 2-D computer model of a scapula was created, using data from 200 "normal" scapulae, so that the position of the glenoid and humeral component could be changed as well as design features such as depth of the polyethylene insert, the size of glenosphere, the position of the center of rotation, and downward glenoid inclination. The model calculated the maximum adduction (notch angle) in the scapular plane when the cup of the humeral component was in conflict with the scapula. Results A change in humeral neck shaft inclination from 155 degrees to 145 degrees gave a 10 degrees gain in notch angle. A change in cup depth from 8 mm to 5 mm gave a gain of 12 degrees. With no inferior prosthetic overhang, a lateralization of the center of rotation from 0 mm to 5 mm gained 16 degrees. With an inferior overhang of only 1 mm, no effect of lateralizing the center of rotation was noted. Downward glenoid inclination of 0 boolean OR to 10 boolean OR gained 10 degrees. A change in glenosphere radius from 18 mm to 21 mm gained 31 degrees due to the inferior overhang created by the increase in glenosphere. A prosthetic overhang to the bone from 0 mm to 5 mm gained 39 degrees. Interpretation Of all 6 solutions tested, the prosthetic overhang created the biggest gain in notch angle and this should be considered when designing the reverse arthroplasty and defining optimal surgical technique

Brachydactyly

Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism

Osteopetrosis

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density(1). The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic(2-4). We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis(5). In this study, LEMD3 interacted with BMP and activin-TGFP receptor-activated Smads and antagonized both signaling pathways in human cells