Disclosure summary: the authors have nothing to declare.
Article first published online: 14 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 856–860, April 2012
How to Cite
Capalbo, D., Melis, D., De Martino, L., Palamaro, L., Riccomagno, S., Bona, G., Cordeddu, V., Pignata, C. and Salerno, M. (2012), Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. Am. J. Med. Genet., 158A: 856–860. doi: 10.1002/ajmg.a.35234
How to Cite this Article: Capalbo D, Melis D, De Martino L, Palamaro L, Riccomagno S, Bona G, Cordeddu V, Pignata C, Salerno M. 2012. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. Am J Med Genet Part A 158A:856–860.
- Issue published online: 23 MAR 2012
- Article first published online: 14 MAR 2012
- Manuscript Accepted: 18 DEC 2011
- Manuscript Received: 3 AUG 2011
- chronic tics;
- GH insensitivity;
- Noonan-like syndrome with loose anagen hair;
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.