Characteristics of dystonia in the 18p deletion syndrome, including a new case
β Scribed by Anna G. Postma; Corien C. Verschuuren-Bemelmans; Klaas Kok; Teus van Laar
- Book ID
- 116369615
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 211 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0303-8467
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π SIMILAR VOLUMES
of Cases With Asymmetric Crying Face and del(22)(q11.2) Detected by FISH Age Case 1 9 years Case 2 4 weeks Case 3 3 years Case 4 24 years Case 5 e 3 years Case 6 2 weeks Case 7 Normal a VPI, velopalatal insufficiency. b DAOM: Depressor Anguli Oris Muscle. c VSD, ventricular septal defect. d All show
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