Possible case of Rubinstein-Taybi syndrome in a prehistoric skeleton from west-central Illinois

• Published in: American journal of medical genetics 2000-03, Vol.91 (1), p.56-61
• Main Author: Wilbur, Alicia Kay
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Bone and Bones - abnormalities; Cephalometry; Diagnosis, Differential; Diseases of the osteoarticular system; Female; Fossils; Humans; Illinois; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; metacarpals; Metacarpus - abnormalities; radial ray dysplasia; Rubinstein-Taybi syndrome; Rubinstein-Taybi Syndrome - diagnosis; skeleton; Tropical medicine
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(20000306)91:1<56::AID-AJMG10>3.0.CO;2-W

I describe an adult female skeleton (#Yo3‐96) from the Yokem Mound skeletal series that had microcephaly; mild micrognathia; a broad nasal bridge; orbital hypertelorism; hypoplasia of the first metacarpals; pes planus; anomalies of the cervical spine, ribs, and sternum; and delayed epiphyseal remodeling of the radii and tibiae. Because the Yokem series has been subject to extensive measurement in previous studies, Yo3‐96 can be characterized metrically and compared with others from her population. A differential diagnosis is made by comparing the available skeletal evidence with the known syndromes characterized by radial ray dysplasia. It is suggested that Yo3‐96 represents the earliest known case of Rubinstein‐Taybi syndrome, a mental retardation syndrome that has been described in individuals from several modern populations. Am. J. Med. Genet. 91:56–61, 2000. © 2000 Wiley‐Liss, Inc.