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February 1967

The Oto-palato-digital Syndrome: A New Symptom-Complex Consisting of Deafness, Dwarfism, Cleft Palate, Characteristic Facies, and a Generalized Bone Dysplasia

Author Affiliations

From the departments of pediatrics (Dr. Dudding) and radiology (Dr. Langer), University of Minnesota Medical School, and the Division of Oral Pathology, University of Minnesota School of Dentistry (Dr. Gorlin), Minneapolis.

Am J Dis Child. 1967;113(2):214-221. doi:10.1001/archpedi.1967.02090170078006

TAYBI, in 1962, reported a case of "generalized skeletal dysplasia with multiple anomalies," suggesting that this possibly represented a new clinical entity.1

Three male siblings with a similar constellation of anomalies were seen at the University of Minnesota.

Because of the well-defined nature of the anomalies, it is suggested that this condition be called the "oto-palato-digital syndrome" and that some of the more interesting aspects be discussed.

Report of a Case  An 8-year-old boy was admitted to University of Minnesota Hospitals for the first time in April 1965, for evaluation of poor school progress.The patient was the product of an uneventful, full-term gestation and an uncomplicated delivery. His birth weight was 2,836 gm (6 lb 4 oz), and his length was 48.3 cm (19 inches). A cleft of the soft palate was noted at birth. He sat without support at 9 months, crawled at 12 months, walked at

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