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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Facies


Psychiatry related information on Facies


High impact information on Facies


Chemical compound and disease context of Facies


Biological context of Facies


Anatomical context of Facies


Associations of Facies with chemical compounds

  • They also have increased bifrontal diameters, hypertonia, prominent finger pads, and thin, deep-set nails, and the face is quite different from the Marshall facies [13].
  • With 60 mg hydrocortisone daily, effects of overdosage were observed (swelling and Cushingoid facies) associated with depigmentation [27].
  • The patients were assessed for the presence of specific cushingoid manifestations (buffalo hump, moon facies) and steroid-associated diabetes [28].
  • We examined 10 AK, biopsied from the facies and extremities of ten patients, ages 60 to 80, with antibodies to psi-3, involucrin, filaggrin, and AE1 [29].
  • The two facies of pyrrolizidine alkaloids: the role of the tertiary amine and its N-oxide in chemical defense of insects with acquired plant alkaloids [30].

Gene context of Facies

  • The helix-loop-helix transcription factor HAND2 plays a vital role in the development of the heart, limb, facies, and other neural crest-derived structures [31].
  • Noonan syndrome is a developmental disorder with dysmorphic facies, short stature, cardiac defects, and skeletal anomalies, which can be caused by missense PTPN11 mutations [32].
  • An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism [33].
  • The series of GH insensitivity patients in the European study shows a spectrum of clinical and biological defects, with several patients at the milder end of the spectrum having normal facies [34].
  • Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features [35].

Analytical, diagnostic and therapeutic context of Facies


  1. Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies. Garabédian, M., Jacqz, E., Guillozo, H., Grimberg, R., Guillot, M., Gagnadoux, M.F., Broyer, M., Lenoir, G., Balsan, S. N. Engl. J. Med. (1985) [Pubmed]
  2. Spontaneous skin tearing during systemic corticosteroid treatment. Gottlieb, N.L., Penneys, N.S. JAMA (1980) [Pubmed]
  3. The teratogenic effects of a bis(dichloroacetyl)diamine on hamster embryos. Aortic arch anomalies and the pathogenesis of the DiGeorge syndrome. Binder, M. Am. J. Pathol. (1985) [Pubmed]
  4. Temporal fat pad sign during corticosteroid treatment. Gottlieb, N.L. Arch. Intern. Med. (1980) [Pubmed]
  5. Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3. Marx, S.J., Swart, E.G., Hamstra, A.J., DeLuca, H.F. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  6. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Lowery, M.C., Morris, C.A., Ewart, A., Brothman, L.J., Zhu, X.L., Leonard, C.O., Carey, J.C., Keating, M., Brothman, A.R. Am. J. Hum. Genet. (1995) [Pubmed]
  7. Di George anomaly and velocardiofacial syndrome. Stevens, C.A., Carey, J.C., Shigeoka, A.O. Pediatrics (1990) [Pubmed]
  8. Azathioprine for long-term maintenance of remission in autoimmune hepatitis. Johnson, P.J., McFarlane, I.G., Williams, R. N. Engl. J. Med. (1995) [Pubmed]
  9. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C., Dobyns, W.B., Ledbetter, D.H. Hum. Mol. Genet. (1997) [Pubmed]
  10. Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503). Stratakis, C.A., Lafferty, A., Taymans, S.E., Gafni, R.I., Meck, J.M., Blancato, J. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  11. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. Stevenson, R.E., Häne, B., Arena, J.F., May, M., Lawrence, L., Lubs, H.A., Schwartz, C.E. J. Med. Genet. (1997) [Pubmed]
  12. Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). Kroes, H.Y., Tuerlings, J.H., Hordijk, R., Folkers, N.R., ten Kate, L.P. J. Med. Genet. (1994) [Pubmed]
  13. The syndromes of Marshall and Weaver. Fitch, N. J. Med. Genet. (1980) [Pubmed]
  14. Pilomatrix dysplasia in an immunosuppressed patient. Chastain, M.A., Millikan, L.E. J. Am. Acad. Dermatol. (2000) [Pubmed]
  15. South American rattlesnake bite in a Brazilian teaching hospital. Clinical and epidemiological study of 87 cases, with analysis of factors predictive of renal failure. Silveira, P.V., Nishioka, S.d.e. .A. Trans. R. Soc. Trop. Med. Hyg. (1992) [Pubmed]
  16. Impact of phenytoin therapy on the skin and skin disease. Scheinfeld, N. Expert opinion on drug safety. (2004) [Pubmed]
  17. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? Cauwels, R.G., De Coster, P.J., Mortier, G.R., Marks, L.A., Martens, L.C. J. Oral Pathol. Med. (2005) [Pubmed]
  18. The evaporation path of seawater and the coprecipitation of Br- and K+ with halite. McCaffrey, M.A., Lazar, B., Holland, H.D. Journal of sedimentary petrology. (1987) [Pubmed]
  19. Endocrine function in sclerosteosis. Epstein, S., Hamersma, H., Beighton, P. S. Afr. Med. J. (1979) [Pubmed]
  20. The deletions of 22q11--the Portuguese experience. Gaspar, I.M., Lourenço, M.T., Reis, M.I., Soares, M.A., Nogueira, G., Ferreira, F., Feijóo, M.J. Genetic counseling (Geneva, Switzerland) (1999) [Pubmed]
  21. Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation. Pfeiffer, R.A. Ann. Genet. (1984) [Pubmed]
  22. Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. Porteous, M.E., Burn, J. J. Med. Genet. (1990) [Pubmed]
  23. Multiple coagulation defects and the Cohen syndrome. Schlichtemeier, T.L., Tomlinson, G.E., Kamen, B.A., Waber, L.J., Wilson, G.N. Clin. Genet. (1994) [Pubmed]
  24. Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase. Frydman, M., Steinberger, J., Shabtai, F., Steinherz, R. Am. J. Med. Genet. (1986) [Pubmed]
  25. The acrocallosal syndrome. Philip, N., Apicella, N., Lassman, I., Ayme, S., Mattei, J.F., Giraud, F. Eur. J. Pediatr. (1988) [Pubmed]
  26. Second trimester diagnosis of Neu Laxova syndrome. Shivarajan, M.A., Suresh, S., Jagadeesh, S., Lata, S., Bhat, L. Prenat. Diagn. (2003) [Pubmed]
  27. Probable pituitary adenoma with adrenocorticotropin hypersecretion (corticotropinoma) secondary to Addison's disease. Jara-Albarran, A., Bayort, J., Caballero, A., Portillo, J., Laborda, L., Sampedro, M., Cure, C., Mateos, J.M. J. Clin. Endocrinol. Metab. (1979) [Pubmed]
  28. Methylprednisolone pharmacokinetics, cortisol response, and adverse effects in black and white renal transplant recipients. Tornatore, K.M., Biocevich, D.M., Reed, K., Tousley, K., Singh, J.P., Venuto, R.C. Transplantation (1995) [Pubmed]
  29. "Activated" keratinocyte phenotype is unifying feature in conditions which predispose to squamous cell carcinoma of the skin. Smoller, B.R., Krueger, J., McNutt, N.S., Hsu, A. Mod. Pathol. (1990) [Pubmed]
  30. The two facies of pyrrolizidine alkaloids: the role of the tertiary amine and its N-oxide in chemical defense of insects with acquired plant alkaloids. Lindigkeit, R., Biller, A., Buch, M., Schiebel, H.M., Boppré, M., Hartmann, T. Eur. J. Biochem. (1997) [Pubmed]
  31. Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene. Villanueva, M.P., Aiyer, A.R., Muller, S., Pletcher, M.T., Liu, X., Emanuel, B., Srivastava, D., Reeves, R.H. Genomics (2002) [Pubmed]
  32. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Fragale, A., Tartaglia, M., Wu, J., Gelb, B.D. Hum. Mutat. (2004) [Pubmed]
  33. Kenny syndrome: description of additional abnormalities and molecular studies. Bergada, I., Schiffrin, A., Abu Srair, H., Kaplan, P., Dornan, J., Goltzman, D., Hendy, G.N. Hum. Genet. (1988) [Pubmed]
  34. Partial growth hormone insensitivity. Johnston, L.B., Savage, M.O. Journal of pediatric endocrinology & metabolism : JPEM. (1999) [Pubmed]
  35. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. Thauvin-Robinet, C., El Ghouzzi, V., Chemaitilly, W., Dagoneau, N., Boute, O., Viot, G., Mégarbané, A., Sefiani, A., Munnich, A., Le Merrer, M., Cormier-Daire, V. J. Med. Genet. (2002) [Pubmed]
  36. Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. Ho, H.H., Eaves, L.C. Developmental medicine and child neurology. (1997) [Pubmed]
  37. Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. Pryde, P.G., Zelop, C., Pauli, R.M. Am. J. Med. Genet. A (2003) [Pubmed]
  38. Myotonic dystrophy: molecular genetics and diagnosis. Gharehbaghi-Schnell, E., Finsterer, J., Korschineck, I., Mamoli, B., Binder, B.R. Wien. Klin. Wochenschr. (1998) [Pubmed]
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