التفاصيل البيبلوغرافية
| العنوان: |
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. |
| المؤلفون: |
Capalbo, D., Melis, D., De Martino, L., Palamaro, L., Riccomagno, S., Bona, G., Cordeddu, V., Pignata, C., Salerno, M. |
| المصدر: |
American Journal of Medical Genetics. Part A; Apr2012, Vol. 158A Issue 4, p856-860, 5p |
| مستخلص: |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated with growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We report on a patient with molecularly confirmed NS/LAH exhibiting severe short stature associated with GH insensitivity (GHI), and chronic complex tics, a neurological feature never described before in this syndrome. IGF1 generation test revealed only a blunted increase in IGF1 after exogenous GH treatment, revealing mild GH insensitivity associated with proper STAT5 activation. Most common causes of secondary tics in childhood were excluded. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR] |
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Copyright of American Journal of Medical Genetics. Part A is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
