A case of symbrachydactyly with oligodactyly

The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically. A familial type of this syndrome has also been reported. There have been many classifications of symbrachydactyly. Of these, Blauth classification is the most favored one. Yet these classifications have been inadequate to include many recently discovered other forms of symbrachydactyly. A three month old child was brought to the Istanbul University Genetic Research Center because of his abnormal hands and feet. He was the second child of a couple who had no kinship ties to each other. In the history of the family, there was no mention of any anomaly as such. There was a complete syndactyly involving the 3rd through the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thumb was normal in the right hand. There was only one finger in the left hand. There was total syndactyly in four toes of the right foot with oligodactyly and absence of the big toe. The left foot had five toes with a complete syndactyly between the 2nd and the 3rd. Radiological observation indicated that the middle phalanges of both extremities were rudimentary or never developed. There was no osseous syndactyly. As observed in this case, oligodactylous type that is bilateral and involves both hands and feet together is very unusual. The purpose of this study is to present a rare case of this anomaly that requires a reassessment of symbrachydactyly and its traditional classifications.     

Unilateral agenesis of the diaphragm

Summary A brother and sister with congenital agenesis of the diaphragm are described and the literature reviewed with respect to the familial incidence of congenital diaphragmatic lesions. Although unilateral agenesis of the diaphragm is infrequent, four comparable reports of familial occurrence were found.Based on anatomic and genetic considerations, the hypothesis is advanced that agenesis of the diaphragm may be etiologically different from other lesions of the diaphragm. The possibility exists that a rare recessive gene in some cases might cause this developmental failure of the diaphragm anlage.This investigation was supported in part by USPHS International Postdoctoral Research Fellowship Grant No. FO 5-TW-1129, and by Public Health Service Research Grant No. HD-00635-04, from the National Institute of Child Health and Human Development.     

Diabetic foot infections: fate of the contralateral foot

Following an initial report urging conservative management of severe diabetic foot infections, the authors have managed 45 patients with a minimum 3-year follow-up. By using standard principles for soft-tissue infection, 78 percent of the patients healed minor amputation sites and maintained biped ambulation following the initial foot involvement. Only 22 percent required a major amputation at the time of the initial foot involvement. The 45 patients were followed and 22 (or 49 percent) developed a severe infection involving the contralateral foot within 18 months. Although 15 of the 22 patients developing contralateral infection (or 33 percent of the total series) required some type of amputation on the contralateral foot, the conservative approach allowed 64 percent of the patients with severe infections in both feet to maintain biped ambulation. This included 40 percent of the patients who required amputation of some portion of both feet.     

Natural gaits of the non-pathological flat foot and high-arched foot

There has been a controversy as to whether or not the non-pathological flat foot and high-arched foot have an effect on human walking activities. The 3D foot scanning system was employed to obtain static footprints from subjects adopting a half-weight-bearing stance. Based upon their footprints, the subjects were divided into two groups: the flat-footed and the high-arched. The plantar pressure measurement system was used to measure and record the subjects' successive natural gaits. Two indices were proposed: distribution of vertical ground reaction force (VGRF) of plantar and the rate of change of footprint areas. Using these two indices to compare the natural gaits of the two subject groups, we found that (1) in stance phase, there is a significant difference (p<0.01) in the distributions of VGRF of plantar; (2) in a stride cycle, there is also a significant difference (p<0.01) in the rate of change of footprint area. Our analysis suggests that when walking, the VGRF of the plantar brings greater muscle tension to the flat-footed while a smaller rate of change of footprint area brings greater stability to the high-arched.