A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy.
A hydropic stillborn female fetus of 22 weeks gestation with shortlimbed skeletal dysplasia and brachyphalangy is described. The markedly shortened phalanges of both hands had a most unusual angel-like configuration radiologically. Histological examination and comparison with a normal hand of the same gestational age revealed this appearance to be due to disturbed enchondral ossification with premature calcification of epiphyseal cartilage and thickening and outfolding of diaphyseal bone as wing-shaped appositions. Magnetic resonance imaging of the fetus demonstrated marked hyperplasia of cartilage, most impressive in the pelvis. This new type of lethal bone dysplasia may be placed in the group of metatropic dysplasias and similar disorders.
Caduff
R
R
Department of Pathology, University of Zurich, Switzerland.
Giedion
A
A
Briner
J
J
Martin
E
E
D000328:Adult; D002356:Cartilage / Q000473:pathology; D004392:Dwarfism / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D006965:Hyperplasia; D010009:Osteochondrodysplasias / Q000473:pathology*; D011247:Pregnancy