Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies

Steven G. Brodle, Ralph S. Lachman, Margaret M. McGovern, Pertchoui B. Mekikian, William R. Wilcox

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in the skull, mandible, and pubis. The ribs were very short, abnormally modeled, and wide anteriorly. The vertebrae were posteriorly hypoplastic and wedged, particularly in the cervical and lumbar regions. The femora and tibiae were short with wide distal metaphyses, undermodeled diaphyses, and coxa vara. The humeri, radii, and ulnae were also short and undermodeled with proximal and distal flare. Chondro-osseous morphology showed short chondrocyte columns, extension of hypertrophic cells into the metaphysis, and overgrowth of perichondral bone. In the resting cartilage there were large chondrocytes containing a homogeneous material staining pink with von Kossa trichrome, gray with toluidine blue, and black with silver methenamine. The cortical bone was lacking and the trabecular bone was hypercellular, thick, and coarse. Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum. The radiographic and histopathologic findings in this case are unique and differ from those seen in other reported lethal osteosclerotic skeletal dysplasias.

Original languageEnglish
Pages (from-to)372-377
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume83
Issue number5
DOIs
StatePublished - 23 Apr 1999
Externally publishedYes

Keywords

  • Inclusion bodies
  • Lethal skeletal dysplasia
  • Osteosclerosis

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