Phadke, Shubha R. ; Gulati, Reena ; Agarwal, S. S. (1998) Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face American Journal of Medical Genetics, 77 (1). pp. 16-18. ISSN 0148-7299
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Official URL: http://www3.interscience.wiley.com/journal/5000963...
Related URL: http://dx.doi.org/10.1002/(SICI)1096-8628(19980428)77:1<16::AID-AJMG4>3.0.CO;2-J
Abstract
We report on 2 unrelated Indian girls with blepharophimosis; arachnodactyly; digital contractures which improved spontaneously; elbow deformity; beaked nose; everted lips; large ears; findings similar to those in 2 cases reported previously by Van Den Ende et al. [99; Am J Med Genet 4:467-469]; Gupta et al. [995; J Med Genet :809-8]; thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to John Wiley and Sons, Inc. |
| Keywords: | Arachnodactyly; Camptodactyly; Blepharophimosis |
| ID Code: | 171 |
| Deposited On: | 17 Sep 2010 08:54 |
| Last Modified: | 12 May 2011 03:45 |
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