We report a detailed case of type 2 TS due to p.(Gly402Ser) mutation in exon 8 the CACNA1C gene. The patient shows marked prolongation repolarization with mean QTc 540 ms. He no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he developmental delays, without autism, and dental cardiac phenotype is very severe, resuscitated arrest at 2.5 years age, followed by 26 a...

Backgrounds: Syndactyly is failure of differentiation in which the fingers fail to separate into individual appendages. It most common congenital hand anomaly, with an incidence 1 2,000 2,500 live births. Surgical separation as early 6 month-old indicated when syndactyly involves digits unequal length (i.e., ring and little fingers). Early also required complex cases acrosyndactyly. The timing ...

Mechanisms underlying the emergence and plasticity of representational discontinuities in the mammalian primary somatosensory cortical representation of the hand are investigated in a computational model. The model consists of an input lattice organized as a three-digit hand forward-connected to a lattice of cortical columns each of which contains a paired excitatory and inhibitory cell. Excita...

We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis. The Afrikaners have Dutch antecedants and it seems...

polydactyly is the congenital presence of one or more extra digits. the extra digit often does not contain a full complement of bones. unilateral syndactyly and polydactyl mixed-breed dog was used as a case study. a three-month old unvaccinated intact female mixed breed dog weighing 8 kg, presented with a deformity of the left forepaw was used for this study. the deformity had been present sinc...

background some grafts harvested from the groin area do not become hyperpigmented and in an individual with multiple pieces of grafts, the hyperpigmentation of the pieces may vary. this study evaluates the orientation of the inset of groin grafts according to their donor sites (superior-inferior) and its role in graft hyperpigmentation. methods patients with hand burn contracture or syndactyly ...

Here we report an 8 years old girl who had post natal growth deficiency, microcephaly, facial dysmorphism, partial syndactyly of the second and third toes, susceptibility to infections, leukocytosis, immunodeficiency, adenopathy, but now sign of telangiectasia, ataxia and in evolution developed malignancy. Chromosomal analysis showed anomalies. By combining clinical manifestations and laborator...