Stomatologische Erkrankungen und Defekte

  • Charlotte Opitz
  • Regine Witkowski
Part of the Handbuch der Molekularen Medizin book series (HDBMOLEK, volume 7)


Die hßufigsten und meist leicht zu diagnostizierenden stomatologischen Krankheitsbilder und Defekte sind polygen bedingt, außerdem haben Umweltfaktoren größtenteils eine auslösende Wirkung. In diesem Beitrag aber werden monogen bedingte Erkrankungen vorgestellt, die sehr viel seltener vorkommen.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Ahmad N.N., McDonald-McGinn D.M., Zackai E.H. et al. (1993) A second mutation in the type 11 procollagen gene (COL2AI) causing Stickler syndrome (arthro-ophthalmopathy) is also apremature termination codon. Am J Hum Genet 52:39–45PubMedGoogle Scholar
  2. Aldred M.J., Crawford P.J.M., Roberts E. et al. (1992) Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 14:567–573PubMedGoogle Scholar
  3. Anneren G., Andersson T., Lindgren P.G., Kjartansson S. (1991) Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet 40:257–262PubMedGoogle Scholar
  4. Ardinger H.H., Hanson J.W., Zellweger H.U. (1984) Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. Am J Med Genet 19:653–664PubMedGoogle Scholar
  5. Backman B., Adolfsson U. (1994) Craniofacial structures related to inheritance pattern in amelogenesis imperfecta. Am J Orthod Dentofacial Orthop 105:575–582PubMedGoogle Scholar
  6. Backman B., Holmgren D. (1988) Amelogenesis imperfecta: a genetic study. Hum Hered 38:189–206PubMedGoogle Scholar
  7. Balci S., Ercal MD, Say B., Atasü M. (1993) Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). Clin Dysmorphol 2:208–210Google Scholar
  8. Bamforth J.S., Hughes I., Lazarus J., John R. (1986) Congenital anomalies associated with hypothyroidism. Arch Dis Child 61:608–609PubMedGoogle Scholar
  9. Barker B.C. (1976) Taurodontism: the incidence and possible significance of the trait. Aust Dent J 21:272–276PubMedGoogle Scholar
  10. Batsakis J.G., Brunner J.M., Luna M.A. (1988) Polycystic (dysgenetic) disease of the parotid glands. Arch Otolarygol Head Neck Surg 114:1146–1148Google Scholar
  11. Baumeister F.A.M., Egger J., Schildhauer M.T., Stengel-Rutkowski S. (1993) Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with balanced perieentrie inversion (8) (pl1.2-q22). Clin Genet 44:121–128PubMedGoogle Scholar
  12. Bitoun P., Philippe C., Chrif M., Mulcahy M.T., Gilgenkrantz S. (1992) Incontinentia (type 1) and X-translocation. Ann Genet 35:51–54PubMedGoogle Scholar
  13. Bolino A., Devoto M., Enia G., Zoccali C. Weißenbach J., Romeo G. (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemie rickets. Eur J Hum Genet 1:269–279PubMedGoogle Scholar
  14. Bonaventura J, Stanescu R., Stanescu V. et al. (1992) Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta and joint laxity. Am J Med Genet 44:738–753Google Scholar
  15. Bonthron D.T., Macgregor D.F., Barr D.G.D. (1993) Nager acrofacial dysostosis: minor acrofacial manifestation supporting dominant inheritance. Clin Genet 43:127–131PubMedGoogle Scholar
  16. Böök J.A. (1950) Clinical and genetical studies of hypodontia: premolar aplasia, hyperhidrosis and canities prematura. A new hereditary syndrome in man. Am J Hum Genet 2:240–263PubMedGoogle Scholar
  17. Borgstrom M.K., Riise R., Tornqvist K., Granath L. (1996) Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. J Oral Pathol Med 25:86–89PubMedGoogle Scholar
  18. Boughman J.A., Halloran S.L., Roulston D. et al. (1986) An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. J Craniofac Genet Dev Biol 6:341–350PubMedGoogle Scholar
  19. Braun M., Seitz B., Naumann G.O. (1996) Juvenile open angle glaucoma with microcornea in oculo-dento-digital-dysplasia (Meyer-Schwickerath-Weyers syndrome). Klin Monatsbl Augenheilkd 208:262–263PubMedGoogle Scholar
  20. Breslau-Siderius E.J., Lavrijsen A.P.M., Otten F.W.A. et al. (1991) The Rapp-Hodgkin syndrome. Am J Med Genet 38:107–110PubMedGoogle Scholar
  21. Bullock K.N. (1982) Parotid and submandibular duct calculi in three successive generations of one family. Postgrad Med J 58:35–36PubMedGoogle Scholar
  22. Chadwick B., Hunter B., Hunter L., Aldred M., Wilkie A. (1994) Laband syndrome: report of two cases, review of the literature and identification of additional manifestation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 78:57–63Google Scholar
  23. Chitayat S., Meunier C., Hodgkinson K.A., Azouz M.E. (1991) Robin sequence with facial and digital anomalies in 2 half-brothers by the same mother. Am J Med Genet 40:167–172PubMedGoogle Scholar
  24. Chitayat D., Hodgkinson K.A., Azous W.M. (1992) Intrafamilial variability in cleidocranial dysplasia: a three generation family. Am J Med Genet 42:298–303PubMedGoogle Scholar
  25. Christiansen-Koch S. (1981) Familien-und Sippenuntersuchungen zur Frage der Vererbung des Deckbisses. Med. Dissertation, FU BerlinGoogle Scholar
  26. Chrzanowska K., Fryns J.P. (1993) Miller postaxial acrofacial dysostosis. The phenotypie changes with age. Genet Couns 4:131–133PubMedGoogle Scholar
  27. Chrzanowska K.H., Fryns J.P., Krajewska-Walasek M. et al. (1989) Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses and distinct skeIetal changes: a variant example of the Lenz-Majewski syndrome. Am J Med Genet 32:470–474PubMedGoogle Scholar
  28. Ciolla B., Bahn S.L., Coviea G.L. (1978) Radiographic manifestations of an unusual combination type I and type II dentin dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 45:317–322Google Scholar
  29. Cohen M.M. Jr (1991) Hallermann-Streiff syndrome: a review. Am J Med Genet 41:488–499PubMedGoogle Scholar
  30. Cohen-Solal L., Bonaventure J., Maroteaux P. (1991) Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum Genet 87:297–301PubMedGoogle Scholar
  31. Cole W.G., Campbell P.E., Rogers J.G., Bateman J.F. (1990) The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro 1 (I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. J Med Genet 27:545–551PubMedGoogle Scholar
  32. Collins A.L., Lunt P.W., Garrett C.h., Dennis N.R. (1993) Holoprosencephaly: a family showing dominant inheritance and variable expression. J Med Genet 30:36–40PubMedGoogle Scholar
  33. Cooke D.A.P. (1986) Case report. Renal arteriovenous malformation demonstrated angiographically in hereditary haemorrhagic teleangiectasia (Rendu-Osler-Weber disease). J R Soc Med 79:744–746PubMedGoogle Scholar
  34. Cooper A., Wraith J.E., Savage W.J. et al. (1991) ß-Mannosidose deficiency in a female infant with epileptic encephalopathy. J Inherit Metab Dis 14:18–21PubMedGoogle Scholar
  35. Crawford P.J.M., Aldred M.J. (1990) Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? Clin Genet 38:44–50PubMedGoogle Scholar
  36. Crawford F.C., Sofaer J.A. (1987) Cleft lip with or without cleft palate: identification of sporadic cases with high level of genetic predisposition. J Med Genet 24:163–169PubMedGoogle Scholar
  37. Curtis A.R.J., Lindsay S., Boye E., Clarke A.J., Landy S.J., Bhattacharya S.S. (1994) A study of X chromosome activity in two incontinentia pigmenti families with probable linkage to Xq28. Eur J Hum Genet 2:51–58PubMedGoogle Scholar
  38. Datson N.A., Semina, E., Staalduinen A.A. van et al. (1996) Closing in one the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50 kb region. Am J Hum Genet 59:1297–1305PubMedGoogle Scholar
  39. David H., Reinke P. (1988) Peroxisomale Erkrankungen-eine neue Gruppe von Organellenerkrankungen auf der Basis der Erkenntnisse der modernen Zellularpathologie. Z Klin Med 43:459–468Google Scholar
  40. Davidson H.R., Connor J.M. (1988) Dyskeratosis congenita. J Med Genet 25:843–846PubMedGoogle Scholar
  41. Dereymaeker A.M., Fryns J.P., Hoefnagels M. et al. (1986) The Börjeson-Forssman-Lehmann syndrome. A family study. Clin Genet 29:317–320PubMedGoogle Scholar
  42. Donnai D., Heather L., Sinelair P. et al. (1992) Association of autosomal dominant cleft lip and palate and translocation 6p23; 9q22.3. Clin Dysmorphol 1:89–97PubMedGoogle Scholar
  43. Drachtmann R.A., Alter B.P. (1992) Dyskeratosis congenita: clinical and genetic heterogeneity: report of a new case and review of the literature. Am J Pediatr Haematol Oncol 14: 297–304Google Scholar
  44. Driscoll D.A., Salvin J., Sellinger B. et al. (1993) Prevalence of 22q 11 microdeletions in Di-George and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813–817PubMedGoogle Scholar
  45. Eastman J.R., Melnick M., Goldblatt L.I. (1977) Focal odontoblastic dysplasia: dentin dysplasia type III? Oral Surg Oral Med Oral Pathol Oral Radiol Endod 44:909–914Google Scholar
  46. Eberlein (1964) Beobachtungen über Hßufigkeit und Vererbung des oberen Diastemas in einer mitteldeutschen Landgemeinde. Med. Dissertation, FU BerlinGoogle Scholar
  47. Edwards M.J., Wenstrup R.J., Byers P.H., Cohn D.H. (1992) Recurrence of lethai osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic patent exhibits phenotypic features of a mild form of the disease. Hum Mutat 1:47–54PubMedGoogle Scholar
  48. Ehrenstein T., Maurer J., Liokumowitsch M., Mack M., Felix R., Bier J. (1997) CT and MR findings in frontometaphyseal dysplasia. J Comput Assist Tomogr 21:218–220PubMedGoogle Scholar
  49. Erpenstein H., Pfeiffer R.A. (1967) Geschlechtsgebunden-dominant erbliche Zahnunterzahl. Humangenetik 4:280–293PubMedGoogle Scholar
  50. Erpenstein H., Wannenmacher E. (1968) Schmelzhypoplasie und offener Biß als autosomal dominant vererbtes Merkmalspaar. Dtsch Zahnarztl Z 23:405–414PubMedGoogle Scholar
  51. Fallon M.D., Teidelbaum S.I., Weinstein R.S., Goldfischer S., Brown D.M., Whyte M.P. (1984) Hypophosphatasia: elinicopathologic comparison on the infantile, childhood and adult forms. Medicine (Baltimore) 63:12–24Google Scholar
  52. Feichtinger C.h., Richter M. (1977) Zur Kenntnis der Vererbung multipler Zahnunterzahl. Fortschr Kieferorthop 38:44–56Google Scholar
  53. Firatii E., Gurel N., Efeoglu A. (1996) Papillon-Lefevre syndrome: analysis of peripheral blood lymphocyte subsets. J Clin Periodontol 23:823–825Google Scholar
  54. Francannet C.h., Vanlieferinghen P.h., Dechelotte P., Urbrain M.F., Campagne D., Malpuech G. (1994) Ladd syndrome in five members of a three-generation family and prenatal diagnosis. Genet Couns 5:85–91PubMedGoogle Scholar
  55. Freisfeld M. (1976) Überzßhlige Zßhne-ein genetisches und kieferorthopßdisches Problem? Fortschr Kieferorthop 37:196–204Google Scholar
  56. Fryburg J.S., Lin K.Y. (1993) Frontonasal dysplasia in two successive generations. Am J Med Genet 46:712–714PubMedGoogle Scholar
  57. Fuhrmann W. (1988) Humangenetische Betrachtungsweise in der Kieferorthopßdie. Fortschr Kieferorthop. 49:86–95PubMedGoogle Scholar
  58. Fuks A., Rosenmann A., Chosack A. (1978) Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: a new syndrome. J Dent Child 45:51–53Google Scholar
  59. Gershoni-Baruch R., Drugan A., Bronshtein M., Zimmer E.Z. (1990) Roberts syndrome or X-linked amelia. Am J Med Genet 37:569–572PubMedGoogle Scholar
  60. Gladwin A., Donnai D., Metcalfe K. et al. (1997) Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet 6:123–127Google Scholar
  61. Goldblatt J., Singer S.L. (1992) Autosomal recessive gingival fibromatosis with distinctive facies. Clin Genet 42:306–308PubMedGoogle Scholar
  62. Gorlin R.J. (1986) Focal palmoplantar and marginal gingiva hyperkeratosis: a syndrome. Birth Defect Orig Art Ser 12:543–547Google Scholar
  63. Gorlin R.J., Marashi A.H., Obwegeser H.L. (1996) Oculo-faciocardio-dental (OFCD) syndrome. Am J Med Genet 63:290–292PubMedGoogle Scholar
  64. Graf H., Ehmer U. (1978) Das Diastema mediale superior-Definitionen, Ätiologie, Symptomatik. Stomatol DDR 28:657–661PubMedGoogle Scholar
  65. Greenberg F., Gresick M.V., Carpenter R.J. et al. (1987) The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect. Am J Med Genet 26:59–64PubMedGoogle Scholar
  66. Guazzi G., Palmeri S., Malandrini A. et al. (1994) Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome. Am J Hum Genet 50:79–83Google Scholar
  67. Haarow M.J., Friedman J.M. (1991) Congenital cataracts in mother, sister and son of a patient with HallermannStreiff syndrome: coincidence or clue? Am J Med Genet 41:500–501Google Scholar
  68. Happle R., Frosch P.J. (1985) Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet 27:468–471PubMedGoogle Scholar
  69. Hara T., Nagata M., Mizuno Y., Ura Y., Matsuo M., Ueda K. (1992) Recurrent parotid swelling in children: clinical features useful for differential diagnosis of Sjögren’s syndrome. Acta Paediatr 81:547–549PubMedGoogle Scholar
  70. Hart T.C., Marazita M.L., McCanna K.M., Schenkein H.A., Diehl S.R. (1993) Reevaluation of the chromosome 4q candidate region for early-onset periodontitis. Hum Genet 91:416–422PubMedGoogle Scholar
  71. Hart T.C., Stabholz A., Meyle J., Shapira L. et al. (1997) Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. J Periodontal Res 32:81–89PubMedGoogle Scholar
  72. Hasegawa T, Hasegawa Y., Asamura S. et al. (1991) EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lipt palate) with a balanced reeiprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet 40:202–206PubMedGoogle Scholar
  73. Hibbert S.A., Field J.K. (1996) Molecular basis of familial cleft lip and palate. Oral Dis 2:238–241PubMedGoogle Scholar
  74. Holder S.E., Vintiner G.M., Farren B., Malcolm S., Winter R.M. (1992) Confirmation of an assoeiation between RFLPs at the transforming growth factor a locus and non-syndromatic cleft lip and palate. J Med Genet 29:390–392PubMedGoogle Scholar
  75. Horn D., Witkowski R. (1993) Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. Genet Couns 4:305–309PubMedGoogle Scholar
  76. Hughes-Benzie R.M., Tolmie J.L., Mcnay M., Patrick A. (1994) Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum a-feto-protein. Prenat Diagn 14:313–318PubMedGoogle Scholar
  77. Ide S.E., Ortiz de Luna R.I., Francomano C.A., Polymeropoulos M.H. (1996) Exelusion of the MSX1 homeobox gene as the gene for Ellis van Creveld syndrome in the Amish. Hum Genet 98:572–575Google Scholar
  78. Ippel P.F., Gorlin R.J., Lenz W. et al. (1992) Craniofaeial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental and digital defects: confirrnation oft the GorlinChaudhry-Moss syndrome. Am J Med Genet 44:518–522PubMedGoogle Scholar
  79. Jansen P.H.P., Schoonderwaldt H.C., Renier W.O. et al. (1987) Mannosidosis: a study of two patients, presenting clinical heterogeneity. Clin Neurol Neursurg 89:185–192Google Scholar
  80. Jarvinen S. (1976) Formation of multiple supernumerary teeth in early teenage. A case report. Proc Finn Dent Soc 72:132–134PubMedGoogle Scholar
  81. Jörgensen G., Schulze C.h. (1973) Möglichkeiten einer klinisch-genetischen Analyse im Bereich der Kieferorthopßdie. Fortschr Kieferorthop 34: 121–145Google Scholar
  82. Karrman C., Backman B., Dixon M. et al. (1997) Mapping of the locus for autosomal dominant amelogenesis imperfecta (A1H2) to a 4 Mb YAC contig on chromosome 4q11-q21. Genomic 39:164–170Google Scholar
  83. Kenwrick S., Leversha M., Rooke L., Hasler T., Sonderegger P. (1993) Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome. Hum Mol Genet 2:1461–1462PubMedGoogle Scholar
  84. Kittur S., Hoppener J.W.N., Antonarakis S.E. et al. (1985) Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin and insulin-like growth factor II. Proc Natl Acad Sci USA 82:5064–5067PubMedGoogle Scholar
  85. Klausler M., Schinzel A., Gnoinski W. et al. (1987) Dominant vererbte Unterlippenfisteln und Gesichtsspalten (van der Woude-Syndrom). Eine Studie an 52 Fßllen. Schweiz Med Wochenschr 117:127–134PubMedGoogle Scholar
  86. Kobayashi S., Ohmori K., Sekiguchi J. (1995) Johanson-Blizzard syndrome: faeial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. J Craniofac Surg 6:382–385PubMedGoogle Scholar
  87. Konig I., Hausser I., Anton-Lamprecht I., Schroter R., Petzoldt D. (1994) Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome. A rare combination of syndromes. Hautarzt 45:108–112PubMedGoogle Scholar
  88. Körkkö J., Ritvaniemi P., Haataja L. et al. (1993) Mutation in type II procollagen (COL2AI) that substitutes aspartate for glyeine a 1-67 and that caused cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthroophthalmopathy). Am J Hum Genet 53:55–61PubMedGoogle Scholar
  89. Kullaa-Mikonen A. (1988) Family study of fissured tongue. Scand J Dent Res 96:366–375Google Scholar
  90. Kumar A., Chaudhary D., Gupta S.K. (1985) Wildervanck syndrome. Australas Radiol 40:160–161Google Scholar
  91. Kwitek-Black A.E., Carmi R., Duyk G.M. et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 5:392–396PubMedGoogle Scholar
  92. Labuda M., Morgan K., Glorieux F.H. (1990) Mapping autosomal recessive vitamin D dependency type I to chromosomal 12q14 by linkage analysis. Am J Hum Genet 47:28–36PubMedGoogle Scholar
  93. Labuda M., Fujiwara T.M., Ross M.V. et al. (1993) Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res 7:1447–1454Google Scholar
  94. Landy S.J., Donnai D. (1993) Incontinentia pigmenti (BlochSulzberger syndrome). J Med Genet 30:53–59PubMedGoogle Scholar
  95. Lee I.J., Im S.B., Kim D.K. (1993) Hypertrichosis universalis congenita: aseparate entity, or the same disease as gingival fibromatosis? Pediatr Dermatol 10:263–266PubMedGoogle Scholar
  96. Legius E., Die-Schmulders C.E.M. de, Verbraak F. et al. (1994) Genetic heterogeneity in Rieger eye malformation. J Med Genet 31:340–341PubMedGoogle Scholar
  97. Lurie I.W., Ilyna H.G., Podleschutz L.V. et al. (1990) Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet 35:286–288PubMedGoogle Scholar
  98. Lynch J.R., Ogivie D., Priestley L. et al. (1991) Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele. J Med Genet 28:145–150PubMedGoogle Scholar
  99. Mac Dougall M, Zeichner-David M., Murray J., Davis A., Slavkin H. (1992) Dentinphosphoprotein gene locus ist not assoeiated with dentinogenesis imperfecta types II and III. Am J Hum Genet 50:190–194Google Scholar
  100. Maeias-Flores M.A., Garcia-Cruz D., Rivera H. et al. (1984) A new form of hypertrichosis inherited as a X-linked dominant trait. Hum Genet 66:66–70Google Scholar
  101. Mannens M., Hoovers J.M.N., Redeker E., Verjaal M. et al. (1994) Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 2:3–23PubMedGoogle Scholar
  102. Marazita M.L., Burmeister J.A., Gunsolley J.C. et al. (1994) Evidence for autosomal dominant inheritance and race-specific heterogeneity in early-onset periodontitis. J Periodontol 65:623–630PubMedGoogle Scholar
  103. McDonaid M.T., Papenberg K.A., Ghosh S., Glatfelter A.A., Biesecker B.B. et al. (1994) A disease locus for hereditary haemorrhagic teleangiectasia maps to chromosome 9q33-34. Nat Genet 6:197–203Google Scholar
  104. Mitnick R.J., Bello J.A., Shprintzen R.J. (1994) Brain anomalies in velo-cardio-faeial syndrome. Am J Med Genet 54:100–106PubMedGoogle Scholar
  105. Moerman P., Fryns J.P. (1996) Ectodermal dysplasia, RappHodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia clefting syndrome (EEC) in her child. Am J Med Genet 63:479–481PubMedGoogle Scholar
  106. Mora de Meg, Pueyo S.T., Porta J. et al. (1986) Keratodermie mit Periodontitis, Papillon-Lefevre-Syndrom. Zentralbl Haut Geschlechtskrankh 151:151–154Google Scholar
  107. Morris M.E., Augsburger R.H. (1977) Dentin dysplasia with sclerotic bone and skeletal anomalies inherited as an autosomal dominant trait. A new syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 43:267–283Google Scholar
  108. Nakasima A., Ichinose M., Nakata S., Takahama Y. (1982) Hereditary factors in the craniofacial morphology of Angle’s dass II and dass III malocdusions. Am J Orthod 82:150–156PubMedGoogle Scholar
  109. Nakasima A., Ichinose M., Nakata S. (1986) Genetic and environmental factors in the development of so-called pseudoand true mesiocdusions. Am J Orthod Dentofacial Orthop 90: 106–116PubMedGoogle Scholar
  110. Nakumura T., Yamda N., Nonaka R., Sasaki M. (1987) Autosomal dominant type of endosteal hyperostosis with unusual manifestations of sderosis of the jaw bones. Skeletal Radiol 16:48–51Google Scholar
  111. Neumann H.J. (1986) Über den Ursprung des Habsburger Familientypus. Sudhoffs Arch Z Wissenschaftsgesch 70:77–83PubMedGoogle Scholar
  112. Nicholls A.C., Oliver J., Renouf D.V., Heath D.A., Pope F.M. (1992) The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COUA2 allele. Hum Genet 88:627–633PubMedGoogle Scholar
  113. Ogur G., Yuksel M. (1988) Association of syndactyly ectodermal dysplasia and cleft lip and palate. Report of two sibs from Turkey. J Med Genet 25:37–40PubMedGoogle Scholar
  114. Olsson A., Matsson L., Blomquist H.K., Larsson A., Sjodin B. (1996) Hypophosphatasia affecting the permanent dentition. J Oral Pathol Med 25:343–347PubMedGoogle Scholar
  115. Opitz J.M., Mollica F., Sorge G. et al. (1993) Acrofacial dysostosis: review and report of a previously undescripted condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet 47:660–678PubMedGoogle Scholar
  116. Opitz C., Subklew D., Shetty D.K., Lehmann R. (1997) Mediane faziale Dysplasie. Mund Kiefer GesichtsChir 3:159–164Google Scholar
  117. Otaga M. (1991) Acatalasia. Hum Genet 86:331–334Google Scholar
  118. Padrige J.W. (1987) Congenital hypertrichosis lanuginosa: neonatal shaving. Arch Dis Child 62:623–625Google Scholar
  119. Pagon R.A., Beckwith J.B., Ward B.H. (1986) Calvarial hyperostosis: a benign X-linked recessive disorder. Clin Genet 29:73–78PubMedGoogle Scholar
  120. Patton M.A., Laurence K.M. (1985) Three new ca ses of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet 22:386–389PubMedGoogle Scholar
  121. Pavone L., Rizzo R., Rugguri M., Sorge G. (1996) Hypertrichosis, course face, brachydactyly, obesity and mental retardation. Clin Dysmorphol 5:223–229PubMedGoogle Scholar
  122. Perez H.D., Kelly E., Elfman F., Armitage G., Winkler J. (1991) Defective polymorphonuelear leukocyte formyl receptor( s) in juvenile periodontitis. J Clin Invest 87:971–976PubMedGoogle Scholar
  123. Persson M., Sundell S. (1982) Facial morphology and open bite deformity in amelogenesis imperfecta. A roentgenocephalometric study. Acta Odontol Scand 40:135–144PubMedGoogle Scholar
  124. Pinheiro M., Freire-Maia D.V., Miranda E., Silva-Filho O.G., Freire-Maia N. (1986) Trichodermodysplasia with dental alteration: an apparently new genetic ectodermal dysplasia of the trieho-odonto-onychial subgroup. Clin Genet 29:332–336PubMedGoogle Scholar
  125. Poenary L., Akli S., Rocchicciolo F., Eydoux P., Zamet P. (1992) Human ß-mannosidosis: a 3-year-old boy with speech unpairment and emotional instability. Clin Genet 41:331–334Google Scholar
  126. Pokala P., Acs G. (1994) A constellation of dental anoma!ies in a chromosomal deletion syndrom (7q32): case report. Pediatr Dent 16:306–309PubMedGoogle Scholar
  127. Pullara T.J., Sridharan-Iyer K.S. (1986) A syndrome of keratosis palmoplantaris congenita, pes planus, onychogryposis, periodontitis, arachnodactyly and a peculiar acro-osteolysis. Br J Dermatol 115:243–248Google Scholar
  128. Quattromani F., Shapiro S.D., Young R.S. et al. (1983) Clinical heterogeneity in the trieho-dento-osseous syndrome. Hum Genet 64:116–121PubMedGoogle Scholar
  129. Ramesar R.S., Greenberg J., Martin R. et al. (1996) Mapping of the gene for eleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. J Med Genet 33:511–514PubMedGoogle Scholar
  130. Ranta H., Lukinmaa P.L., Knif J. (1990) Dentin dysplasia type II: absence of type III collagen in dentin. J Oral Pathol Med 19:160–165PubMedGoogle Scholar
  131. Regenbogen L. (1985) Cervico-oculo-acustie syndrome. Ophthalmie Paediatr Genet 6:183–187Google Scholar
  132. Reynoso M.C., Hernandez A., Lizcano-Gil L.A. et al. (1994) Autosomal dominant congenital macroglossia: further delineation of the syndrome. Genet Couns 5:151–154PubMedGoogle Scholar
  133. Robinow M. (1993) The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol 2:199–207Google Scholar
  134. Rodini, E.S.O., Riehieri-Costa A. (1990) Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation and syndactyly: Zlotogora-Ogur syndrome. Am J Med Genet 36:473–476PubMedGoogle Scholar
  135. Rollnick B.R., Kaye C.I. (1986) Mendelian inheritance of isolated non-syndromatie cleft palate. Am J Med Genet 24:465–473PubMedGoogle Scholar
  136. Roubicek M., Spranger J. (1984) Weyers akrodental dysostosis in a familiy. Clin Genet 26:287–290Google Scholar
  137. Rowley R., Hili F.J., Winter G.B. (1982) An investigation of the association between anterior open-bite and amelogenesis imperfecta. Am J Orthod Dentofacial Orthop 81:229–235Google Scholar
  138. Rugg E.L., McLean W.H., Allison W.E. et al. (1995) A mutation in the mucosal keratin K 4 is associated with oral white sponge. Nat Genet 11:450–452PubMedGoogle Scholar
  139. Sadeghi E.M., Ostertag P.R., Eslami A. (1989) Oral manifestations of Ehlers-Danlossyndrome: report of case. J Am Dent Assoc 118:187–191PubMedGoogle Scholar
  140. Sander A., Schmelzle R., Murray J. (1994) Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. Hum Mol Genet 3:575–578PubMedGoogle Scholar
  141. Schulze C.h. (1982) Lehrbuch der Kieferorthopßdie, Bd 3. Quintessenz, Berlin, S 237–324Google Scholar
  142. Schulze C.h. (1987) Anomalien und Mißbildungen der menschlichen Zßhne. Quintessenz, Berlin, S 163–171, 281-306, 327-330, 349-399, 459-540Google Scholar
  143. Scrambler P.J., Kelly D., Lindsay E. et al. (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing Di-George locus. Lancet 1:1138–1139Google Scholar
  144. Seifert G. (1988) In: Weidauer H (Hrsg) Pathologie der Speicheldrüsenerkrankungen. Springer, Berlin Heidelberg New YorkGoogle Scholar
  145. Seow W.K. (1993) Trichodentoosseous (TDO) syndrome: case report and literature review. Pediatr Dent 15:355–361PubMedGoogle Scholar
  146. Shapiro S.D., Quattromani F.L., Jorgenson R.J., Young R.S. (1983) Trieho-dento-osseous syndrome: heterogeneity or clinical variability. Am J Hum Genet 16:225–236Google Scholar
  147. Shapiro S.D., Jorgenson R.J., Salinas C.F. (1984) Curry-Hall syndrome. Am J Med Genet 17:579–583PubMedGoogle Scholar
  148. Shaw D., Ray A., Marazita M., Field L. (1993) Further evidence of a relationship between the retinoid acid receptor a 10-cus and nonsyndromatic cleft lip with or without cleft palate (cl±p). Am J Hum Genet 53:1156–1157PubMedGoogle Scholar
  149. Sheffield L.J., Reiss J.A., Strohm K., Gilding M. (1987) A genetic follow-up study of 64 patients with the Pierre Robin complex. Am J Med Genet 28:24–36Google Scholar
  150. Singh R., Nor M., Ghazali W. (1993) Atypieal Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Int J Dermatol 32:450–452PubMedGoogle Scholar
  151. Slodgor J., Fiks A., Borochowitz Z., Tal Y. (1993) KohlschütterTönz syndrome: epilepsy, dementia and amelogenesis imperfecta. Am J Med Genet 46:453–454Google Scholar
  152. Stoelingen P.J.W., Koomen H.A. de, Davis G.B. (1976) Multiple nonerupting teeth, maxillo-zygomatical hypoplasia and other congenital defects: an autosomal recessive disorder. Clin Genet 10:222–225Google Scholar
  153. Sybert V.P. (1994) Incontinentia pigmenti nomenclatura. Am J Hum Genet 55:209–210PubMedGoogle Scholar
  154. Tajara E.H., Pinheiro M., Freire Maia N. (1987) Pilodentoungular dysplasia with microcephaly. A new ectodermal dysplasia, malformation syndrome. Am J Med Genet 26:153–156Google Scholar
  155. Talal N., Moutsopoulos H.M., Kassan S.S. (1987) Sjörgens’s syndrome. Clinical and immunologie al aspects. Springer, Berlin Heidelberg New YorkGoogle Scholar
  156. Tammoscheit U.G. (1979) Autosomal regelmßßig-dominante Schmelzhypoplasie mit frontal offenem Biß-Zufall oder Pleiotropie? Zahnarztl Welt 88:952–956Google Scholar
  157. Taylor G.A., Jordan C.E., Dorst S.K., Dorst J.P. (1984) Polycarpaly and other anomalities of the wrist in chondroectodermal dysplasia: the Ellis-van-Creveld syndrome. Radiology 151:393–396PubMedGoogle Scholar
  158. Teebi A.S. (1990) Autosomal recessive Robinow syndrome. Am J Med Genet 35:64–68PubMedGoogle Scholar
  159. Temple.I.K., MacDowall P., Baraitser M., Atherton D.J. (1990) Focal dermal hypoplasia (Goltz syndrome). Arch Dermatol 86: 180–187Google Scholar
  160. Thompson E.M., Winter R.M. (1988) Another family with the Habsburg jaw. J Med Genet 25:838–842PubMedGoogle Scholar
  161. Tomerup N., Brandt C.A., Pedersen S., Bolund L., Kamper J. (1993) Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t (9,11) (p11.2; p15.5). J Med Genet 30:958–961Google Scholar
  162. Toriello H.V. (1993) Oral facial digital syndromes. Clin Dysmorphol 2: 95–105PubMedGoogle Scholar
  163. Toumba K.J., Gutteridge D.L. (1995) Lacrimo-auriculo-dentodigital syndrome: a literature review and case report. Quintessenz Int 26:829–839Google Scholar
  164. Trieb R., Burg G., Bottani A., Schinzel A. (1994) Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant trieho-odonto-onychodysplasia with syndactyly. J Am Acad Dermatol 30:289–290Google Scholar
  165. Tsakalos N., Jordaan F.H., Taljaard J.J.F., Hough S.F. (1986) A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. Arch Dermatol 122: 1047–1053Google Scholar
  166. Urban M.D., Schosser R., Spohn W., Wentling W.O., Robinow M. (1991) New clinical aspects of hereditary mucoepithelial dysplasia. Am J Med Genet 39:338–341PubMedGoogle Scholar
  167. Urban J., Toruniowa B., Janniger C.K., Czely D., Schwartz R.A. (1996) Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. Cutis 58:329–336PubMedGoogle Scholar
  168. Van den Berg D.J., Francke U. (1993) Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104–1123Google Scholar
  169. Varela M., Ramos C. (1996) Chondroectodermal dysplasia (Ellis-van-Creveld syndrome): a case report. Eur J Orthod 18:313–318PubMedGoogle Scholar
  170. Vaux C., Sheffield L., Keith C.G., Voullaire L. (1992) Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 29:256–258PubMedGoogle Scholar
  171. Vogt B.R., Traupe H., Hamm H. (1988) Congenital atrichia with nail dystrophy, abnormal facies and retarded psychomotor development in two siblings: a new autosomal recessive syndrome? Pediatr Dermatol 5:236–242PubMedGoogle Scholar
  172. Warburg M. (1991) An update on mierophthalmos and coloboma. Abrief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet 12:57–63PubMedGoogle Scholar
  173. Wehrmann W., Traupe H., Happle R. (1985) Papillon-LefevreSyndrom: Keratosis palmoplantaris mit Periodontopathie. Hautarzt 36:173–175PubMedGoogle Scholar
  174. Weksberg R., Teshima I., Williams B.R.G. et al. (1993) Molecular characterization of cytoGenetic alteration associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet 2:549–556PubMedGoogle Scholar
  175. Weyers H. (1972) Beitrßge zum PHC-Syndrom. Zahnarztl Prax 23:291–292PubMedGoogle Scholar
  176. Wiedemann H.R. (1997) Salivary gland dis order and heredity. Am J Med Genet 68:222–224PubMedGoogle Scholar
  177. Winiker-Blank E., Biedermann F., Grimm H., Rühlmann B. (1973) Erbliche Komponente bei echten Zystenbildungen sowie pseudozystischen Verßnderungen im Kieferknochen. Dtsch Zahn Mund Kieferheilkd 60:167–177Google Scholar
  178. Witkop C.I. Jr (1986) Agenesis of succedaneous teeth: an expression of the homozygous state of the gene for the pegged or missing maxillary lateral incisor trait. Am J Med Genet 26:431–436Google Scholar
  179. Witkowski R., Prokop O., Ullrich E. (1999) Lexikon der Syndrome und Fehlbildungen. Springer, Berlin Heidelberg New YorkGoogle Scholar
  180. Wolff G., Wienker T.F., Sander H. (1993) On the genetics of mandibular prognathism: analysis of large European noble families. J Med Genet 30:112–115PubMedGoogle Scholar
  181. Wyszynski D.F., Beaty T.H., Maestri N.E. (1996) Genetics of nonsyndromie oral clefts revisited. Cleft Palate Craniofac J 33:406–417PubMedGoogle Scholar
  182. Zampino G., Mastroiacovo P., Rieci R. et al. (1993) Costello syndrome: further clinical delineation, natural history, genetic definition and nosology. Am J Med Genet 47:176–183PubMedGoogle Scholar
  183. Zangwill K.M., Boal D.K.B., Ladda R.L. (1988) Dandy-Walker malformation in Ellis-van-Creveld syndrome. Am J Med Genet 31:123–129PubMedGoogle Scholar
  184. Zerres K., Holtgrave E.A. (1986) The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. Clin Genet 30: 177–183PubMedGoogle Scholar
  185. Zlotogora J., Fuks A., Borochowitz et al. (1993) KohlschütterTonz syndrome: epilepsy, dementia and amelogenesis imperfecta. Am J Med Genet 46:453–454PubMedGoogle Scholar
  186. Zonana J., Sarafarazi M., Thomas N.S.T. et al. (1989) Improved definition of carrier status in X-linked hypohidrotie ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. J Pediatr 114:392–399PubMedGoogle Scholar
  187. Zonana J., Gault J., Davies K.J.P. et al. (1993) Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. Am J Hum Genet 52:78–84PubMedGoogle Scholar
  188. Zori R.T., Gray B.A., Bent-Williams A. et al. (1993) Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Am J Med Genet 46:379–383PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • Charlotte Opitz
  • Regine Witkowski

There are no affiliations available

Personalised recommendations