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 remode
Further case of Rubinstein–Taybi syndrome due to a deletion in EP300
✍ Scribed by Patricia Foley; David Bunyan; John Stratton; Michelle Dillon; Sally Ann Lynch
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 148 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The deletion 9p syndrome is a well-recognized entity, with about 100 reported cases. Characteristic findings include trigonocephaly, upslanting palpebral fissures, epicanthal folds, anteverted nares, long philtrum, posteriorly angulated and poorly formed ears, excess of whorls on the fingers, and me
Neurofibromatosis type 1 (NF1), affecting primarily the growth of neural crest-derived tissues, is one of the most common autosomal dominant genetic disorders with an unusually high spontaneous mutation rate. In four cases of sporadic NF1, demonstrated by hemizygosity to have a deletion involving th