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WOS: 000185870300016, PubMed ID: 14564221, We report on a case with polydactyly, syndactyly and brachydactyly of the hands and oligodactyly of the feet, but no other anomalies and normal chromosome analysis. We compared the findings in our case with those of brachydactyly B, Fuhrmann syndrome and Haas-type syndactyly. However, it was not possible to suggest a syndrome diagnosis in the present case.

WOS: 000185848800006, PubMed ID: 14577675, Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not.

WOS: 000081334900669, …

WOS: 000187362300003, PubMed ID: 14738111, A case with Pyle type Metaphyseal Dysplasia: clinical, radiological and histological evaluation: Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a case with Pyle type metaphyseal dysplasia. The characteristic features of the case were metapyhseal broadening with undertubulation and Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses. There were also platyspondyly with biconcave lens appearance of the vertebral bodies, congenital hip dislocation and normal cranium. Bone histopathology showed decreased number of osteoclasts. To the best of our knowledge, this is the first reported case of Pyle type metaphyseal dysplasia from Turkey.