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
Dudding BA, Gorlin RJ, Langer LO. The Oto-palato-digital Syndrome: A New Symptom-Complex Consisting of Deafness, Dwarfism, Cleft Palate, Characteristic Facies, and a Generalized Bone Dysplasia. Am J Dis Child. 1967;113(2):214–221. doi:10.1001/archpedi.1967.02090170078006
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: