The story
Identified by J. Keutel et al in 1972.
Etymology from Wiktionary, CC BY-SA 4.0.
Today it means: A rare genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges of the fingers, and mild mental retardation. Full definition →
Identified by J. Keutel et al in 1972.
Etymology from Wiktionary, CC BY-SA 4.0.