Gomez-Lopez-Hernandez Syndrome: Expanded Phenotype
نویسندگان
چکیده
منابع مشابه
Gomez-Lopez-Hernandez syndrome
Gomez-Lopez-Hernandez syndrome is a rare form of cerebellotrigeminal dermal dysplasia, first documented by Gómez and reported by López-Hernández. It comprises mainly neurological, dysmorphic and cutaneous symptoms. The genetic basis of this sporadic disorder GLH is not yet clear. De novo chromosomal arrangements or spontaneous dominant mutations may represent possible explanations. Identificati...
متن کاملGomez-Lopez-Hernandez syndrome: an easily missed diagnosis.
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so...
متن کاملC:/Documents and Settings/petrucci/Documenti/Conferences_workshop/Acat_2007/Paper_PoS/acat2007.dvi
G. Bauerg, V. Boyerd , J. Branson f , A. Brettd , E. Canod , A. Carbonid , M. Ciganekd , S.Cittolind , S. Erhande, D. Gigid , F. Gleged , R. Gomez-Reinod , M. Gulminiad, E. Gutierrez Mlotd , J. Gutleberd , C. Jacobsd , J. C. Kimc, M. Kluteg, E. Lipeles f , J. Lopez Perezd , G. Marona, F. Meijersd , E. Meschid , R. Moserdi, S. Murrayh, A. Ohd , L. Orsinid , C. Pausg, A. Petrucci∗a, M. Pieri f , ...
متن کاملMeasuring complexity in Brazilian economic crises
Capital flows are responsible for a strong influence on the foreign exchange rates and stock prices macroeconomic parameters. In volatile economies, capital flows can change due to several types of social, political and economic events, provoking oscillations on these parameters, which are recognized as economic crises. This work aims to investigate how these two macroeconomic variables are rel...
متن کاملThe Distribution Sector in a Cpe: Cuba
1 I would like to thank J. Perez-Lopez and S. Roca for providing unpublished or difficult to obtain material for this paper and F. Alvarez for his comments at the second ASCE meetings where the paper was first presented.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2000
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-14-10-11