A syndrome of peculiar facies and osseous defect.
Jablonski: Orofacial anomalies consist of hypertelorism, antimongoloid palpebral slant, low-set ears, cleft palate, retrognathia, promient forehead, and Robin's anomaly. Bone defects include faulty ossification of the cranial vault, broad sutures and fontanels, sinous ribs, long and thin clavicles, flat vertebrae, abnormal bowing and hyperostosis of the long bones, and faulty ossification of the bones of hands and feet with fanned out toes and shortening of the hand bones. Appears to be transmitted as an X-linked trait and is usually lethal within a few weeks.
See also entry for Taybi'as syndrome, under Hooshang Taybi, Iranian-American paediatric radiologist, born 1919.
We thank Andre Trombeta for information submitted.
- 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.
- M. André, et al:
Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome.
Journal of Pediatrics, St. Louis, 1981, 98: 747-752. Source:
- Jablonski’s Dictionary of Syndromes & Eponymic diseases.
Stanley Jablonski. Krieger Publishing Company, Malabar, Florida, 1991.