A malformation syndrome with the characteristic features of small trunk, prominent forehead and supraorbital ridges, broad depressed nasal bridge, hypertelorism, small jaw, nose and mouth, partial anodontia, cleft soft palate, and impaired hearing. Also short broad phalanges of thumbs and toes, and short nails. Women usually less severely affected than men. Cleft palate, deafness, short stature, and mental retardation occur only in males. The inheritance pattern is X-linked recessive or semidominant.
- H. Taybi:
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle’s disease.
The American Journal of Roentgenology, Radium Therapy and Nuclear Medicine, 1962, 88: 450-457.
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