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References for:
Diagnosis in Dysmorphology: Clues From the Skin

[Br J Dermatol 151(5):953-960, 2004. © 2004 Blackwell Publishing]

  1. Winter RM, Baraitser M. London Dysmorphology Database. Bushey: London Medical Databases, 2003 (http://www.lmdatabases.com).
  2. Arbuckle HA, Morelli JG. Pigmentary disorders: update on neurofibromatosis 1 and tuberous sclerosis. Curr Opin Pediatr 2000; 12: 354-8.
  3. Fryns JP, Chrzanowska K. Syndrome of the month: mucosal neuromata syndrome (MEN type IIB (III). J Med Genet 1988; 25: 703-6.
  4. Beckwith JB. Nephrogenic rests and the pathogenesis of Wilms tumour: developmental and clinical considerations. Am J Med Genet 1998; 79: 268-73.
  5. Beckwith JB. Children at increased risk for Wilms tumour: monitoring issues. J Pediatr 1998; 132: 77-9.
  6. Eng CM, Banikazemi M, Gordon RE et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711-22.
  7. Winter RM. What's in a face? Nat Genet 1996; 12: 130-6.
  8. Zonana J, Jones M, Browne D et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am J Hum Genet 1992; 51: 1036-46.
  9. Kere J, Baybayan P, Chen EY et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-16.
  10. Ezer S, Schlessinger D, Srivastava AK et al. Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. Hum Mol Genet 1997; 6: 1581
  11. Baraitser M, Winter RM. A Colour Atlas of Clinical Genetics, 2nd edn. London: Wolfe Medical Publications, 1988.
  12. Hall JG, Froster-Iskenius UG, Allanson JE. Handbook of Normal Physical Measurements, 2nd edn. Oxford: Oxford University Press, 1995.
  13. On Line Mendelian Inheritance in Man (OMIM), 2003 (http://www.ncbi.nlm.nih.gov/Omim).
  14. Toriello HV, Lacassie Y, Droste P et al. Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. Am J Med Genet 1993; 45: 764-6.
  15. Kimonis VE, Goldstein AM, Pastakia B et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997; 69: 299-308.
  16. Irvine AD, McLean WHI. The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol 2002; 147: 1-13.
  17. Enders G, Miller E, Craddock-Watson J et al. Consequences of varicella and herpes zoster in pregnancy: prospective study of 1739 cases. Lancet 1994; i: 1547-50.
  18. Fonseca W, Alencar AJC, Pereira RMM et al. Congenital malformation of the scalp and cranium after failed first trimester abortion attempt with misoprostol. Clin Dysmorphol 1993; 2: 76-80.
  19. Goto MP, Goldman AS. Diabetic embryopathy. Curr Opin Pediatr 1994; 6: 486-91.
  20. Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet 1999; 8: 1853-9.
  21. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7.
  22. Fryns JP. Syndrome of the month: congenital scalp defects with distal limb reduction anomalies. J Med Genet 1987; 24: 493-6.
  23. Savarirayan R, Thompson EM, Abbott KJ et al. Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome. Am J Med Genet 1999; 86: 15-19.
  24. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd edn. Berlin: Walter de Gruyter, 2001.
  25. Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 1997; 34: 582-6.
  26. Digilio MC, Conti E, Sarkozy A et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002; 71: 389-94.
  27. Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999; 85: 330-3.
  28. Tumer Z, Horn N. Menkes disease: recent advances and new aspects. J Med Genet 1997; 34: 265-74.
  29. Chelly J, Tumer Z, Tonnesen T et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993; 3: 14-19.
  30. Pascual-Castroviejo I, Diaz-Gonzalez C, Garcia-Melian RM et al. Sturge-Weber syndrome: study of 40 patients. Pediatr Neurol 1993; 9: 283-8.
  31. Houwing RH, Oosterkamp RF, Berghuis M et al. Rothmund-Thomson syndrome. Br J Dermatol 1991; 125: 279-80.
  32. Kitao S, Shimamoto A, Goto M et al. Mutations in the RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22: 82-4.
  33. Byers PH. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994; 103: S47-52.
  34. Beighton P, De Paepe A, Steinmann B et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1988; 77: 31-7.
  35. Schwarze U, Atkinson M, Hoffman GG et al. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet 2000; 66: 1757-65.
  36. Yeowell HN, Walker LC. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. Proc Assoc Am Phys 1997; 109: 383-96.
  37. Tassabehji M, Metcalfe K, Hurst J et al. An elastin gene mutation producing tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998; 7: 1021-8.
  38. Jung K, Ueberham U, Hausser I et al. Autosomal recessive cutis laxa syndrome. Acta Derm Venereol (Stockh) 1996; 76: 298-301.
  39. Ballabio A, Parenti G, Carrozzo R et al. Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987; 84: 4519-23.
  40. Ballabio A, Bardoni B, Carrozzo R et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989; 86: 10001-5.
  41. Biesecker LG, Happle R, Mulliken JB et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999; 84: 389-95.
  42. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-4.
  43. Lehmann AR, Thompson AF, Harcourt SA et al. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 1993; 30: 679-82.
  44. Margolis S, Siegel IM, Choy A et al. Depigmentation of hair, skin, and eyes associated with the Apert syndrome. Birth Defects Orig Artic Series 1978; 14: 341-60.
  45. Wilkie AO, Slaney SF, Oldridge M et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9: 165-72.
  46. Munro CS, Wilkie AOM. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998; 352: 704-5.
  47. Allen TL, Brothman AR, Carey JC et al. Cytogenetic and molecular analysis in trisomy 12p. Am J Med Genet 1996; 63: 250-6.
  48. Carakushansky G, Teich E, Ribeiro MG et al. Diploid/triploid mosaicism: further delineation of the phenotype. Am J Med Genet 1994; 52: 399-401.
  49. Sarkell B, Blaylock WK, Vernon H. Congenital neonatal herpes simplex virus infection. J Am Acad Dermatol 1992; 27: 817-21.
  50. Giam YC, Khoo BP. Focal dermal hypoplasia (Goltz syndrome). Pediatr Dermatol 1998; 15: 399-402.
  51. Donnai D, Read AP, McKeown C et al. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988; 25: 809-18.
  52. Ars E, Serra E, Garcia J et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000; 9: 237-47.
  53. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993; 30: 53-9.
  54. Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. Nature 2000; 405: 466-72.
  55. Tsukahara M, Opitz JM. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996; 63: 277-89.
  56. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47: 959-64.
  57. Tolmie JL, De Berker D, Dawber R et al. Syndromes associated with trichothiodystrophy. Clin Dysmorphol 1994; 3: 1-14.
  58. Takayama K, Salazar E, Broughton BC et al. Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy. Am J Hum Genet 1996; 58: 263-70.
  59. Woods CG, Taylor AMR. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992; 82: 169-79.
  60. Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science 1995; 268: 1749-53.
  61. Berry SA, Peterson C, Mize W et al. Klippel-Trenaunay syndrome. Am J Med Genet 1998; 79: 319-26.
  62. Clayton-Smith J, Kerr B, Brunner H et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly -- a distinctive overgrowth syndrome. Clin Dysmorphol 1997; 6: 291-302.
  63. Erdem N, Gunes AT, Avci O et al. A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy. Dermatology 1994; 188: 318-21.
  64. Zampino G, Mastroiacovo P, Ricci R et al. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet 1993; 47: 176-83.
  65. Gorlin RJ, Cohen MM Jr, Condon LM et al. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992; 44: 307-14.
  66. Marsh DJ, Dahia PLM, Zheng Z et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997; 16: 333-4.
  67. Haddad J, Dandach A, Sleiman G et al. Juvenile hyaline fibromatosis. Arch Pediatr 1997; 4: 1200-4.
  68. Hanks S, Adams S, Douglas J et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73: 791-800.
  69. Hahn H, Gillies S, Negus K et al. Mutations of the human homolog of Drosophilia patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85: 841-52.