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Hereditary multiple exostoses (HME) is an autosomal dominant condition with a wide spectrum of clinical presentations. The purpose of this study was to determine the relationship between the genotype and the phenotype in HME. Thirty-two affected individuals from 10 families participated in the study. An extensive description of HME phenotype in terms of the anatomical burden of disease involved clinical and radiographic examinations and evaluation of 76 parameters. Mutations were determined by sequencing the EXT 1 and EXT 2 genes. Mutations were found in eight families (26 individuals), with one mutation previously reported in the literature and seven novel mutations. There were seven subjects with an EXT 1 mutation and 16 with an EXT 2 mutation. Patients with EXT 1 mutation were found to have more exostoses, more limb malalignment with shorter limb segments and height, and more pelvic and flatbone involvement. A genotype-phenotype correlation exists in HME, with patients with EXT 1 mutations having a higher degree of anatomical burden.

Observed parallels between the curveback syndrome and human idiopathic scoliosis suggest that the guppy model is an unexploited resource for the identification of primary etiological factors involved in curvature. As models for biomedical research, teleosts offer great potential regarding spinal stability and deformity.

Background Abuse of children is abhorrent in Western society and, yet, is not uncommon. Nonaccidental trauma (NAT) is the result of a complex sociopathology. Not all of the causative factors of NAT are known, many are incompletely described, not all function in each case, and many are secondary to preexisting pathology in other areas. Questions/purposes We therefore addressed the following questions in this review: (1) Conclusions It is important to consider child, family, and societal factors when confronted with suspicions of child abuse. Our review demonstrates the currently limited information on the true incidence of NAT. To determine a much more accurate incidence of NAT, there needs to be a population-based surveillance program conducted through primary care providers.

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A pivotal point in most clubfoot management protocols is Achilles tendon lengthening or tenotomy to address hindfoot deformity. The effectiveness of botulinum A toxin (BTX-A) in attenuating the function of the triceps surae muscle complex as an alternative to tenotomy was investigated. Fifty-one patients with 73 idiopathic clubfeet were recruited. Outcome measures included surgical rate, Pirani clubfoot score, ankle dorsiflexion with knee in flexion and extension, and recurrences. Patients were divided according to age: group 1 (<30 days old) and group 2 (>30 days and <8 months old). Ankle dorsiflexion in knee flexion and extension remained above 20 degrees and 15 degrees, respectively, and Pirani scores below 0.5 following BTX-A injection for both groups. One of the 51 patients required limited posterior release and 9 patients required repeat manipulation and casting plus or minus BTX-A injection. The use of BTX-A as an adjunctive therapy in the noninvasive approach of manipulation and casting in idiopathic clubfoot is a safe and effective treatment.

The placement of 2 small interbody cages posterolaterally tended to result in higher failure loads than central cage placement, although the results were not statistically significant. It is noteworthy that cage placement in any position resulted in a less stiff construct in compression than with an intact disc.