TY - JOUR
T1 - Fibrochondrogenesis
T2 - Radiologic and histologic studies
AU - Eteson, D. J.
AU - Adomian, G. E.
AU - Ornoy, A.
AU - Koide, T.
AU - Sugiura, Y.
AU - Calabro, A.
AU - Lungarotti, S.
AU - Mastroiacovo, P.
AU - Lachman, R. S.
AU - Rimoin, D. L.
PY - 1984
Y1 - 1984
N2 - Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.
AB - Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.
UR - http://www.scopus.com/inward/record.url?scp=0021748857&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320190210
DO - 10.1002/ajmg.1320190210
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C2 - 6507479
AN - SCOPUS:0021748857
SN - 0148-7299
VL - 19
SP - 277
EP - 290
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -