INTRODUCTION Congenital hallux varus of secondary type is associated with polydactyly, syndactyly or other congenital deformities of the foot. Such congenital deformities can be addressed in childhood with soft tissue reconstructive procedures. In adulthood, treatment of these deformities is challenging because of soft tissue contractures and rigid bony deformities. To our knowledge, this is th...

This paper describes previously unreported malformations of both fore and hind feet in a liveborn common marmoset. Ectrodactyly of both fore feet and left hind foot and syndactyly of the right hind foot were observed.

A kindred of seven affected individuals in three generations is described with autosomal dominant inheritance of bilateral five-fingered hands, pedal polydactyly with syndactyly and agenesis of the tibia and of the lower end of the radius.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

We show that combinatorial mouse alleles for the secreted metalloproteases Adamts5, Adamts20 (bt), and Adamts9 result in fully penetrant soft-tissue syndactyly. Interdigital webs in Adamts5(-/-);bt/bt mice had reduced apoptosis and decreased cleavage of the proteoglycan versican; however, the BMP-FGF axis, which regulates interdigital apoptosis was unaffected. BMP4 induced apoptosis, but withou...

Timothy syndrome is a rare genetic disorder characterized by QT prolongation (designated LQT8), arrhythmias and sudden death, structural heart disease, cognitive defects with autism, syndactyly (webbed fingers and toes), hypoglycemia, and immune deficiencies.1,2 A single mutation (G406R) in exon 8a of the cardiac L-type calcium channel (CACNA1C, Cav1.2, 1c) was shown to cause Timothy syndrome i...

We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (...

Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes ma...