American journal of diseases of children · 1967 · 85 citations · 6 references
MedicineObstetricsPediatricsHuman GeneticsNeonatologyPediatric OtolaryngologyCongenital AnomaliesCongenital Craniofacial AnomaliesCongenital MalformationsCongenital Oral AnomaliesDysplasiaSkeletal DysplasiasAbnormal Palatal GrowthBirth Weight AssessmentCongenital Skeletal DisordersGestation PeriodOrofacial Digital SyndromesPalatal Developmental DefectsPalatal Morphology AnomaliesSoft Palate Growth
TAYBI, in 1962, reported a case of generalized skeletal dysplasia with multiple 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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Broad Thumbs and Toes and Facial Abnormalities
Jack H. Rubinstein · American journal of diseases of children · 1963 · 512 citations
Medicine, Pediatrics, Psychiatry +6
Nicholas Hajdu, R Kauntze · British Journal of Radiology · 1948 · 148 citations
Cranial Manifestations of Familial Metaphyseal Dysplasia
Paul A. Mori, John F. Holt · Radiology · 1956 · 32 citations
Medicine, Anatomy, Genodermatoses +11
Idiopathic Non-Familial Aero-Osteolysis
Benjamin E. Greenberg, Dana M. Street · Radiology · 1957 · 30 citations