Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.
OBJECTIVE
To clarify the phenotype in a bone dysplasia termed "spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes" by Stanescu et al.


METHODS
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.


CONCLUSIONS
The manifestations of our patients are sufficiently characteristic to constitute a distinct entity.
Nishimura
G
G
Department of Radiology, Dokkyo University School of Medicine, Tochigi-ken, Japan.
Saitoh
Y
Y
Okuzumi
S
S
Imaizumi
K
K
Hayasaka
K
K
Hashimoto
M
M
D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D019902:Chondrocytes / Q000000981:diagnostic imaging* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant / Q000235:genetics; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011859:Radiography
D006023:Glycoproteins