Possible case of Rubinstein-Taybi syndrome in a prehistoric skeleton from west-central Illinois
โ Scribed by Wilbur, Alicia Kay
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 56 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000306)91:1<56::aid-ajmg10>3.0.co;2-w
No coin nor oath required. For personal study only.
โฆ Synopsis
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.
๐ SIMILAR VOLUMES
This report describes 11 patients with Rubinstein-Taybi syndrome (RTS) and patellar dislocation. The age at diagnosis of patellar dislocation ranged from birth to 16 years. Ten patients had chronic dislocations and 8 of 11 had bilateral patellar dislocations. Eight patients required surgical stabili
## Rubinstein -Taybi syndrome (RTS) is a rare multiple congenital anomaly syndrome comprising mental and growth retardation, broad thumbs and great toes, and an unusual face. The classical facial appearance is well-established, striking and easy to recognize. It includes downslant of the palpebral
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in
A 7-year-old girl with Rubinstein-Taybi syndrome (RTS) who had a history of neuroblastoma and premature thelarche is reported. The neuroblastoma was detected at age 6 months on a nation-wide neuroblastoma screening program, surgically removed, and took a favorable clinical course with minimal therap
**'. . . a novel brilliantly evoking the isolation of a woman with an unbearable weight on her conscience' \*Sunday Times**\* Having been shot in the shoulder in the line of duty, Dutch police detective Lotte Meerman returns to work after four months of painful recovery - yet not all her colleagues