Dysostosis Multiplex: Pfaundler-hurler Syndrome Report of Two Cases

Pfaundler reported two cases to the Medical Society in Munich which were described in detail in 1919 by his assistant Hurler. They displayed the following unusual combination of congenital anomalies: clouding of the corneae, a deformity of the skull (oxycephaly), a disproportionate dwarfism strongly resembling that of hypothyroidism and associated with some of the usual signs of that condition (saddle nose, mental defect, dry skin, inguinal and umbilical herniae, crura valga, pedes valgi), a contraction of the fingers, limitation of movement in other joints (shoulders, elbows, knees) and defective hearing, to mention only the most striking features. Pfaundler at once suspected that he was dealing with a new syndrome. His assumption proved to be correct, as since his publication, twenty more cases have been recorded in Britain, America and Germany, showing the same combination of anomalies. I recently had the opportunity of observing two similar cases in China. The publication of these seems to me to be justified, not only on account of their rarity, but also because the patients were brothers, because they are the first of their kind observed in China, and because they both presented in addition to the anomalies described by the other authors, a bilateral Sprengel's deformity (congenital elevation of the scapula) which was present, but overlooked in some of the previous cases. The name dysostosis multiplex was recently proposed for the syndrome. I consider it more suitable than the name gargoylism, proposed by Ellis and his associates.