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

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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Extra resources for Advances in Human Genetics

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They are a number of clinical features in common with diastrophic dwarfs, such as club feet, external ear deformities, hand anomalies, and peculiar facies, but the number of anomalies present and their severity are quite variable from patient to patient. Radiographic changes have also been quite variable in this disorder, but abnormalities have been found similar to those seen in diastrophic dwarfism, including short, twisted, bowed long bones, disproportionate shortening of radius and ulna, metaphyseal flaring, radial head dislocation, and short metacarpals and phalanges (Fig.

Multiple epiphyseal dysplasia. (A) Four-year-old affected male. Note the short limbs, the arms reaching only to the hips. (B) Radiograph of pelvis of 14-yr-old affected male. Note the dysplastic femoral head on the right. Arthrographic dye was inserted into the left hip area and shows the outline of the uncalcified femoral head. The size and shape of the femoral head appeared fairly normal. (C) Costochondral junction from the patient shown in (A). Note the long, regular columns of celIs with normal spicule formation.

Chondroosseous histopathology in thanatophoric dwarfism is characterized by normal-appearing resting cartilage with generalized disruption of endochondral ossification. 23 ,59,138,156,201,264,272 The majority of cases on which the previous pathological literature based the interpretation of the pathology of achondroplasia were, in fact, thanatophoric dwarfism. Identical alterations in chondroosseous histopathology have been found in every growth plate studied, Resting cartilage is completely normal, with round to spindle-shaped chondrocytes and abundant homogeneous-staining matrix (Fig.

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

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