Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.

Abstract:

OBJECTIVE:To clarify the phenotype in a bone dysplasia termed "spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes" by Stanescu et al. DESIGN AND PATIENTS:Subjects comprised two definitive cases of one family and one probable case of another family. Histologic examination in one patient warranted the diagnosis of the first family, whereas the diagnosis of the second family was based solely on clinical and radiologic grounds. RESULTS:Pedigrees revealed an autosomal dominant mode of transmission. All three patients shared painful large joints with joint restriction, progressive contracture with osseous expansion of the finger joints, and normal height despite the presence of a short trunk. Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and most characteristically, broad, elongated femoral necks with striking coxa valga were identical in all patients, but the patient of the second family showed severe brachydactyly unlike the other two patients. Histologic examination revealed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum filled with moderately electron-dense materials found by electron microscopy. CONCLUSION:The manifestations of our patients are sufficiently characteristic to constitute a distinct entity.

journal_name

Skeletal Radiol

journal_title

Skeletal radiology

authors

Nishimura G,Saitoh Y,Okuzumi S,Imaizumi K,Hayasaka K,Hashimoto M

doi

10.1007/s002560050363

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

188-94

issue

4

eissn

0364-2348

issn

1432-2161

journal_volume

27

pub_type

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