We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty degeneration of the liver. In both, the facial appearance was different and neither had short stature nor progressive cardiac valvular disease. These clinical findings, consistent with a mild form of GD, support the notion that this disorder may have a broader spectrum than initially suspected.

Purpose The biomechanical properties of the polyurethanes implant material derived from castor oil plant (Ricinus communis) were evaluated in a noncritical bone defect model in rat tibia. Methods After three weeks of the implant application, the tibias were tested by means of the biomechanical three-point flexion test and resistance, rigidity, energy at maximum load and maximum energy were evaluated. Nonparametric statistical analysis was performed. Results It was found that the group that received the implant behaved the same as the intact control group and also showed a significant increase in maximum load compared to the spontaneous repair group. Conclusions Our results indicate that the tibias with the implant material in a noncritical bone defect recover normal biomechanical parameters in less time than spontaneously.

We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.

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