Download e-book for iPad: Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn

By David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 146159068X

ISBN-13: 9781461590682

ISBN-10: 1461590701

ISBN-13: 9781461590705

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Histologically, epiphyses consisted of normal appearing, resting chondrocytes. There was orderly cellular maturation until the hypertrophic zone, where the cells began to lack columnization, were densely populated, and often were binucleated. Calcification and ossification occurred in a disorderly fashion with haphazard capillary penetration. In other areas, unmineralized foci lagged behind, resulting in an irregular ossification line. In the metaphyses, however, bony spicules were thick. These changes differ from those seen in achondrogenesis Langer-Saldino type by the more normal amounts of intercellular matrix, the normal sized resting chondrocytes, the markedly irregular zone of ossification, and the well-developed metaphyseal bony spicules.

A definitive diagnosis of thanatophoric dwarfism should be possible by means of histological evaluation of any chondroosseous junction. The etiology ofthanatophoric dwarfism is in doubt, as the great majority of cases reported were sporadic. Apparently affected sibs of normal parents were reported by Harris and Patton,107 suggesting autosomal recessive inheritance, but these individuals were subsequently found to have achondrogenesis. lOB Graff et al. 38 • 94 reported two affected sibs whose parents were first cousins, but personal review of the radiographs and endochondral histopathology of one of these cases definitely rules out thanatophoric dwarfism.

C) Costochondral junction from the patient shown in (A). Note the long, regular columns of celIs with normal spicule formation. Fig. 8e 43 44 David L. Rimoin epiphyseal dysplasia before they are classified as spondyloepiphyseal dysplasiaY7,121,122,207,209 Thus the distinction in the literature between these two groups of disorders is somewhat confusing. Fairbank reported an epiphyseal biopsy in one of his original patients showing bone which was not very abnormal except for rather scarce bony trabeculae which appeared more like woven bone than compact bone.

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Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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