A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven generations, of whom 182 are affected. It appears that a founder effect in this village has led to this extensive kindred. This condition is inherited as an autosomal dominant trait with variable expressivity and an estimated penetrance of 96%. Penetrance is different between the upper (96%) and lower (69.5%) extremities. No excess of affected males or females or other associated features were documented in this condition. Variations in the involvement of one or both hands, upper or lower extremities, bone and soft tissue, as well as variation in the affected subjects of two successive generations were documented. We also noted that metacarpal and metatarsal involvement and middle phalangeal hypoplasia of the feet are the consistent features of SPD and, therefore, should be considered as characteristic of this phenotype. We observed four different phenotypes in various branches of the Derbent kindred: (1) subjects presenting typical features of SPD; (2) subjects exhibiting both pre- and post-axial polydactyly simultaneously; (3) persons manifesting postaxial polydactyly type A; and (4) subjects born to two affected parents with severe hand and foot deformities that have not been previously described in any other SPD families (that is, homozygotes). A total of 27 affected offspring were born to two such affected parents, of whom seven are expected to be homozygous for the SPD gene. This group is presented in an accompanying paper in this issue of the Journal. A molecular study is currently under way to identify the chromosomal location of the defective gene

Is the surgical technique of a sutureless and glue-free conjunctivolimbal auto graft after pterygium excision complications free?

Context: Sutures or fibrin glue have been used to fix a conjunctival graft after pterygium excision. A new surgical technique of using patient′s own blood to affix the conjunctival graft after excision of pterygium has been introduced. This technique is safe, economical and reduces complications related to the use of foreign materials. Aim: The aim was to evaluate the surgical technique of a sutureless and glue-free graft for pterygium surgery in terms of complications such as loss of graft, graft dehiscence, and recurrence. Materials and Methods: This was a prospective interventional study. All patients that came to the outpatients department from July 2012 to December 2012 were included in the study. Pterygium excision with conjunctivolimbal autografting without using suture or glue was carried out in all patients. Patients were followed-up postoperatively up to 6 months. They were examined mainly for postoperative complications. Results: A total of 79 eyes of 74 patients underwent suture less glue-free autologous conjunctivolimbal graft after pterygium excision. There were 53 female (mean age-46.85 years standard deviation (SD) 10.59) and 26 male (mean age-45.04 years SD 17.27) patients. There were 77 cases of primary pterygium and two cases of recurrent pterygium. Medial edge recession of the graft was seen in one case (1.2%), whereas two cases (2.5%) had lost graft on the first postoperative day. There were no recurrences at the end of 6 months. Conclusion: The surgical technique of using a sutureless and glue-free conjunctivolimbal autograft is safe and cost-effective. However, this technique is associated with few complications such as medial edge recession and loss of graft

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure of the cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may develop from an exostosis. EXT is genetically heterogeneous, and three loci have been identified so far: EXT1, on chromosome 8q23-q24; EXT2, on 11p11-p12; and EXT3, on the short arm of chromosome 19. The EXT1 and EXT2 genes were cloned recently, and they were shown to be homologous. We have now analyzed the EXT1 and EXT2 genes, in 26 EXT families originating from nine countries, to identify the underlying disease-causing mutation. Of the 26 families, 10 families had an EXT1 mutation, and 10 had an EXT2 mutation. Twelve of these mutations have never been described before. In addition, we have reviewed all EXT1 and EXT2 mutations reported so far, to determine the nature, frequency, and distribution of mutations that cause EXT. From this analysis, we conclude that mutations in either the EXT1 or the EXT2 gene are responsible for the majority of EXT cases. Most of the mutations in EXT1 and EXT2 cause premature termination of the EXT proteins, whereas missense mutations are rare. The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function

Indicators of successful use of the Pavlik harness in infants with developmental dysplasia of the hip

This study examined the outcomes of ultrasound-monitored Pavlik harness treatment in 25 infants (2 boys and 23 girls) representing a total of 31 cases of developmental dysplasia of the hip of Graf type IIc or more severe. For all infants, Pavlik harness treatment started after ultrasonographic diagnosis in our clinic. If there was no improvement by the third week of follow-up, the harness treatment was discontinued. Of the 25 patients (31 hips), 16 patients (18 hips) were successfully treated with the Pavlik harness. The effects of age at start of treatment, gender, side of pathology, first clinical evaluation findings, bilaterality, and Graf type on Pavlik harness treatment success were analysed. We found that the outcome of treatment with the Pavlik harness was related to Graf type, age at start of treatment, and bilaterality