Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation

Pediatric Neurology

Volumn 48, Issue 4, 2013, Pages 329-332

  Azukizawa, Takayuki ^a   Yamamoto, Masahito ^a   Narumiya, Seirou ^a   Takano, Tomoyuki ^b  

^a NAGAHAMA RED CROSS HOSPITAL   (Japan)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ETIRACETAM; VALPROIC ACID; ZONISAMIDE;

APGAR SCORE; ARTICLE; CASE REPORT; CEREBELLUM VERMIS; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DANDY WALKER SYNDROME; DIFFUSION WEIGHTED IMAGING; DYSOSTOSIS; ELECTROENCEPHALOGRAPHY; FEMALE; GRAY MATTER HETEROTOPIA; HAMARTOMA; HEMISPHERE; HETEROTOPIA; HUMAN; HYPERTELORISM; HYPOPLASIA; HYPOTHALAMIC HAMARTOMA; HYPOTHALAMUS; INFANT; INTRACEREBRAL CYST; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PORENCEPHALY; PRIORITY JOURNAL; STRABISMUS; SUBARACHNOID SPACE; SYNDACTYLY; TENDON REFLEX; COMPLICATION; DANDY-WALKER SYNDROME; HYPOTHALAMIC DISEASES; OROFACIODIGITAL SYNDROMES;

DANDY-WALKER SYNDROME; FEMALE; HAMARTOMA; HUMANS; HYPOTHALAMIC DISEASES; INFANT; OROFACIODIGITAL SYNDROMES;

EID: 84875171813     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.12.016     Document Type: Article

References (13)

1. M. Papillon-Leage, and J. Psaume Une malformation hereditaire de la muquese buccale, brides et fret anormaux Rev Stomatol (Paris) 55 1954 209 227
2. M. Macca, and B. Franco The molecular basis of oral-facial-digital syndrome, type1 Am J Med Genet Part C 151C 2009 318 325
3. M. Holub, L. Potocki, and O.A. Bodamer Central nervous system malformations in oral-facial-digital syndrome, type1 Am J Med Genet Part A 136A 2005 218
4. M.I. Ferrante, G. Giorge, and S.A. Feather Identification of the gene for oral-facial-digital type 1 syndrome Am J Hum Genet 68 2001 569 576
5. S. Odent, B.L. Marec, and A. Toutain Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type1 Am J Med Genet 75 1998 389 394
6. M.J. Leao, and M.L. Ribeiro-Silva Orofaciodigital syndrome type 1 in a patient with severe CNS defects Pediatr Neurol 13 1995 247 251
7. S. Gunbay, B. Zeytinoglu, F. Ozkinay, C. Ozkinay, and A. Oncag Orofaciodigital syndrome 1 J Clin Pediatr Dent 20 1996 329 332
8. H. Nemoto, and N. Mitsukawa A case of oral-facial-digital syndrome type1 (in Japanese) Keisei Geka (Tokyo) 52 2009 1351 1356
9. S. Chetty-John, K. Piwnica-Worms, and J. Bryant Fibrocystic disease of liver and pancreas; Under-recognized features of the X-linked celiopathy oral-facial-digital syndrome type 1(OFD 1) Am J Med Genet Part A 152A 2010 2640 2645
10. E. Mihci, S. Tacoy, G. Ozbilim, and B. Franco Oral-facial-digital syndrome type1 Indian Pediatr 44 2007 854 856
11. V. Shotelersuk, C.J. Tifft, S. Vacha, K.F. Peters, and L.G. Biesecker Discordance of oral-facial-digital syndrome type1 in monozygotic twin girls Am J Med Genet 86 1999 269 273
12. C. Thauvin-Robinet, M. Cossee, and V. Cormier-Daire Clinical, molecular, and genotype-phenotype correlation studies from 25cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study J Med Genet 43 2006 54 61
13. M. Muenke, D.M. McDonald, A. Cronister, J.M. Stewart, R.J. Gorlin, and E.H. Zackai Oral-facial-digital syndrome type 6 (Varadi syndrome): Further clinical delineation Am J Med Genet 35 1990 360 369