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Original Article

Syndromes of Facial Clefting

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Pages 13-25 | Published online: 08 Jul 2009

References

  • Ahrens K. Chromosomale Untersuchungen bei craniofacialen Missbildungen. H N O (Berlin) 1967; 15: 106, Case 3A, 3B
  • Appelt J., Gerken H., Lenz W. Tetraphokomelie mit Lippen-Kiefer-Gaumenspalte und Klitorishyper-trophie—ein Syndrom. Pädiat Pathol 1966; 2: 119
  • Ayer A. A., Mariappa D. Hare-lip and cleft palate in double monsters. Indian Acad Sci 1953; 38: 153
  • Bach C., Maroteaux P., Schaeffer P., Bitan A., Crumiere C. Dysplasie Spondylo-epiphysaire congenitale avec anomalies multiples. Arch Franc Pediat 1967; 24: 23
  • Bartlett R. C. Cephalothoracopagus. Arch Path 1959; 68: 292
  • Berkman M. D., Finegold M. Oculoauriculovertebral dysplasia (Goldenhar's syndrome). Oral Surg 1968; 25: 408
  • Bixler D., Christian J. C., Gorlin R. J. Hypertelorism, microtia and facial clefting. A new inherited syndrome. Am J Dis Child 1969; 118: 495, and Birth Defects 5(2), 77
  • Braun F. C., Jr, Bayer J. F. Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings. J Pediatr 1962; 60: 33
  • Cervenka J., Gorlin R. J., Anderson V. E. The syndrome of pits of the lower lip and cleft lip and/or palate. Am J Hum Genet 1967; 19: 416
  • Cohen M. M., Jr. A craniofacial and dentofacial study of Apert type acrocephalosyndactyly. 1970, M. S. Thesis Univ. Minnesota
  • Cohen M. M., Jr, Knobloch W., Gorlin R. J. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). Birth Defects 1971; 7(7)83
  • Delaney W. V., Podedworney W., Havener W. H. Inherited retinal detachment. Arch Ophthal 1963; 69: 44
  • DeMyer W., Zeman W., Palmer C. G. Familial alobar holoprosencephaly with median cleft lip and palate. Neurology (Minneap) 1963; 13: 913
  • DeMyer W., Zeman W., Palmer C. G. The face predicts the brain: diagnostic significance of median facial anomalies of holoprosencephaly (arhinencephaly). Pediatrics 1964; 34: 256
  • Doege T. C., Thuline H. C., Priest H. H., Norby D. E., Bryant J. S. Studies of a family with the oral-facial-digital syndrome. New Engl J Med 1964; 271: 1073
  • Dudding B. A., Gorlin R. J., Langer L. O. The oto-palato-digital (OPD) syndrome. A new symptom-complex consisting of deafness, cleft palate, characteristic facies and a generalized bone dysplasia. Am J Dis Child 1967; 113: 214
  • Francois J. Syndrome malformatif avec cryptophthalmie. Acta Genet Med (Roma) 1969; 18: 18
  • Frandsen E. Hereditary hyaloideo-retinal degeneration (Wagner) in a Danish family. Acta Ophthal (Kbh) 1966; 44: 223
  • Fraser G. R., Friedmann A. I., Maroteaux P., Glen-Bott A., Mittwoch U. Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps. Arch Dis Childh 1969; 44: 490
  • Freire-Maia N. A new recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities. Am J Hum Genet 1970; 22: 370
  • Fryns J. P., Eggermont E., Veressen H., van den Berghe. The 4p-syndrome, with a report of two new cases. Humangenetik 1973; 19: 99
  • Fuhrmann W., Stahl A., Schroeder T. M. Das oro-facio-digitale Syndrom. Humangenetik 1966; 2: 133
  • Gall J. C., Jr, Stern A. M., Poznanski A. K., Garn S. M., Weinstein E. D., Hayward J. R. Oto-palato-digital syndrome. Comparison of clinical and radio-graphic manifestations in males and females. Am J Hum Genet 1972; 24: 24
  • Gordon H., Davies D., Berman N. Camptodactyly, cleft palate and club foot. A syndrome showing the autosomal dominant pattern of inheritance. J Med Genet 1969; 6: 266
  • Gorlin R. J. The oral-facial-digital (OFD) syndrome. Cutis 1968; 4: 1345
  • Gorlin R. J., Pindborg J. J. Syndromes of the head and neck. McGraw-Hill, New York 1964
  • Gorlin R. J., Sedano H. O., Cervenka J. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and intercrural pterygia, digital and genital anomalies. Pediatrics 1968; 41: 503
  • Gorlin R. J., Cervenka J., Anderson R. C., Sauk J. J., Bevis W. Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child 1970; 119: 176
  • Gorlin R. J., Cervenka J., Pruzansky S. Facial clefting and its syndromes. Birth Def Orig Art Ser 1971; 7(7)1
  • Gorlin R. J., Schlorf R. A., Paparella M. M. Cleft palate, stapes fixation and oligodontia—a new autosomal recessive inherited syndrome. Birth Defects 1971; 7(7)87
  • Gorlin R. J., Sedano H. O. The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects 1971; 7(8)140
  • Gorlin R. J., Pindborg J. J., Cohen M. M., Jr. Syndromes of the head and neck. 2nd ed. McGraw-Hill, New York 1975
  • Grabb W. C. The first and second branchial arch syndrome. Plast Reconstr Surg 1965; 36: 485
  • Grimm G., Taatz H. Die klinische Bedeutung des Pierre Robin Syndroms und seine Behandlung. Deutsch Zahn Mund Kinderheilk 1964; 43: 385
  • Hässler E. Fenestrae parietalis symmetrica. Mschr Kinderheilk 1936; 64: 337
  • Herrmann J., Feingold M., Tuffli G. A., Opitz J. M. A familial dysmorphogenetic syndrome of limb deformities, characteristic appearance and associated anomalies: the “pseudothalidomide” or “SC-syndrome”. Birth Defects 1969; 5(3)81
  • Hintz R. L., Menking M., Sotos J. F. Familial holoprosencephaly with endocrine dysgenesis. J Pediat 1968; 72: 81
  • Hirose T. Hereditary vitreoretinal degeneration and retinal detachment. Arch Ophthal 1973; 89: 176
  • Hollender L. Enlarged parietal foramina. Oral Surg 1967; 23: 446
  • Ide C. H., Wollschlaeger P. B. Multiple congenital abnormalities associated with cryptophthalmia. Arch Ophthal 1969; 81: 640
  • Irvine E. D., Taylor F. W. Hereditary and congenital large parietal foramina. Br J Radiol 1936; 9: 456
  • Ivy R. J. A curiosity in the area of cleft lip-cleft palate. Plast Reconstr Surg 1968; 42: 160
  • James F. E. Hypertelorism associated with poor frontal development of skull and bilateral Sprengel's shoulders. Br Med J 1959; I: 1019
  • Juberg R. C., Hayward J. R. A new familial syndrome of oral cranial and digital anomalies. J Pediatr 1969; 74: 755
  • Kaiser-Kupfer M. Ectrodactyly, ectodermal dysplasia and clefting syndrome. Am J Ophthal 1973; 76: 992
  • Kazanjian V. H. Bilateral absence of the ascending rami of the mandible. Br J Plast Surg 1956; 9: 77
  • Kiskadden W. S., Dietrich S. R. Review of the treatment of micrognathia. Plast Reconstr Surg 1953; 12: 364
  • Latham R. A. The pathogenesis of cleft palate associated with Pierre Robin syndrome. An analysis of a 17-week human fetus. Br J Plast Surg 1966; 19: 205
  • Long J. C., Blandford S. E. Ankyloblepharon filiforme adnatum with cleft lip and palate. Am J Ophthal 1962; 53: 126
  • McArthur R. G., Edwards. DeLange syndrome: report of 20 cases. Canad Med Ass J 1967; 96: 1185
  • McDermott A., Insley T., Barton M. E., Rowe P., Edwards J. H. Arhinencephaly associated with a deficiency involving chromosome 18. J Med Genet 1968; 5: 60
  • McNicholl B., et al. Cerebro-costo-mandibular syndrome. A new familial developmental disorder. Arch Dis Childh 1970; 54: 421
  • Markovic M. D. Conjoined twins with mirror image clefts of lip and palate. Cleft Palate J 1970; 7: 690
  • Matolcsy R. Über die chirurgische Behandlung der angeborenen Flughaut. Arch klin Chir 1936; 185: 675
  • Michaelis E., Kemperdick H., Spranger J. W. Dysplasia spondyloepiphysaria congenita. Fortschr Roentgenstr 1973; 119: 429
  • Miller K. E., Allen R. P., Davis W. S. Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome. A Pierre Robin-like syndrome with rib dysplasia. Am J Roentgenol 1972; 114: 253
  • Nichols B. L., Blattner R. J., Rudolph A. J. General clinical management of thoracopagus twins. Birth Defects 1967; 3(1)38
  • Norum R. A., et al. Pterygium syndrome in three children in a recessive pedigree pattern. Birth Def Orig Art Ser 1969; 5(2)233
  • O'Brien H. R., Mustard H. S. An adult living case of total phocomelia. J Am Med Ass 1921; 77, 1964
  • Opitz J., Howe J. J. The Meckel syndrome. (Dysen-cephalia splanchnocystica, the Gruber syndrome). Birth Defects 1969; 5(2)167
  • Papillon-Leage E., Psaume J. Dysmorphie des freins buccaux. Actualities odontostomat 1954; 8: 7
  • Patterson T. J. S. Congenital-ring-constrictions. Br J Plast Surg 1961; 14: 1
  • Pfeiffer R. A., Tünte W., Reinken M. Das Kniepterygium-Syndrom. Ein autosomal-dominant vererbtes Missbildungssyndrom. Z Kinderheilk 1970; 108: 103
  • Pfieffer R. A., Verbeck C. Spalthand und Spaltfuss, ektodermale Dysplasie und Lippen-Kiefer-Gaumen-Spalte: ein autosomal dominant vererbtes Syndrom. Z Kinderheilk 1973; 115: 235
  • Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg 1973; 35: 302
  • Preus M., Fraser F. C. The lobster-claw defect with ectodermal defects, cleft lip-palate, tear duct, anomaly and renal anomalies. Clin Genet 1973; 4: 369
  • Pruzansky S. Not all dwarfed mandibles are alike. Birth Defects 1969; 5(2)120
  • Pruzansky S., Richmond J. B. Growth of the mandible in infants with micrognathia. Am J Dis Child 1954; 88: 29
  • Ptacek L. J., Opitz J. M., Smith D. W., Gerritsen T., Waisman H. A. The Cornelia DeLange Syndrome. J Pediat 1963; 63: 1000
  • Randall P., Krogman W. M., Jahina S. Pierre Robin and the syndrome that bears his name. Cleft Palate J 1965; 2: 237
  • Rapp R. S., Hodgkin W. E. Anhidrotic ectodermal dysplasia; autosomal dominant inheritance with palate and lip anomalies. J Med Genet 1968; 5: 269
  • Robertson G. S., MacKenzie J. Thoracopagus twins with differing first arch defects. Br J Surg 1964; 51: 362
  • Rogers B. O. Berry-Treacher Collins syndrome. A review of 200 cases. Br J Plast Surg 1964; 17: 109
  • Rogers J. W. Ankyloblepharon filiforme adnatum. Arch Ophthal 1961; 65: 114
  • Rüdiger R. A., Haase W., Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate: The EEC syndrome. Am J Dis Child 1970; 120: 160
  • Schinzel A., Schmid W. Trisomie 18. Helv Paediat Acta 1971; 26: 673
  • Chlesinger B., Clayton B., Bodian M., Jones K. V. Typus dengenerativus Amstelodamensis. Arch Dis Childh 1963; 38: 349
  • Schönenberg H. Kryptophthalmus-Syndrom. Klin Pediät 1973; 185: 165
  • Schönenberg H., Lautermann R. Das Robin-Syn-drom. Z Kinderheilk 1966; 97: 326
  • Schreiner R. L., McAlister W. H., Marshall R. E., Shearer W. T. Stickler syndrome in a pedigree of Pierre Robin syndrome. Am J Dis Child 1973; 126: 86
  • Scott C. Pterygium syndrome. Birth Defects 1969; 5(2)231
  • Shah C. V., Pruzansky S., Harris W. S. Cardiac malformations with facial clefts: with observations on the Pierre Robin syndrome. Am J Dis Child 1970; 119: 238
  • Shukowsky W. P. Zur Ätiologie des Stridor inspira-torius congenitus. Jb Kinderheilk 1911; 73: 459
  • Silverman F. N. Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and frequently, cleft palate. Ann Radiol 1972; 15: 297
  • Smith D. W., Lemli L., Opitz J. M. A newly recognized syndrome of multiple congenital anomalies. J Pediat 1964; 64: 210
  • Sood N. N., Agarwal T. P., Ratnaraj A. Ankyloblepharon filiforme adnatum with cleft lip and palate. J Pediatr Ophthalr 1968; 5: 30
  • Spranger J. Arthro-ophthalmopathia hereditaria. Ann Radiol 1968; 11: 359
  • Spranger J. Heterogeneity of chondroplasia punctata. Human-genetik 1971a; 11: 190
  • Spranger J. Chondrodysplasia punctata (Chondrodysplasia calcificans). II. Der rhizomelia Typ. Fortschr Roentgenstr 1971b; 113: 327
  • Spranger J., Gerken H. Diastrophischer Zwerg-wuchs. Z Kinderheilk 1967; 98: 227
  • Spranger J., Langer L. O. Spondyloepiphyseal dysplasia congenita. Radiology 1970; 94: 313
  • Spranger J., Wiedemann H. R. Dysplasia spon-dyloepiphysaria congenita. Helv paediat Acta 1966; 21: 598
  • Stark R. B., Saunders D. E. The first branchial syndrome. The oral-mandibular-auricular syndrome. Plast Reconstr Surg 1962; 29: 229
  • Steel H. H., Kohl E. J. Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. J Bone Joint Surg 1972; 54A: 75
  • Stellmach R., Frenkel G. Über das Vorkommen von spiegelbildich konkordanten vollständigen einseitigen Lippen-Kiefer-Gaumenspalten bei einem siamesischen Zwillingspaar. Dtsch Zahnärztl Z 1970; 25: 28
  • Stickler G. B., Belau P. G., Farrell F. J., Jones J. D., Pugh D. G., Steinberg A. G., Ward L. E. Hereditary progressive arthro-ophthalmopathy. Proc Mayo Clin 1965; 40: 433
  • Stickler G. B., Pugh D. G. Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral anomalies, a hearing defect and a report of a similar case. Proc Mayo Clin 1967; 42: 495
  • Sugar H. S. The cryptophthalmos-syndactyly syndrome. Ar. J Ophthai 1968; 66: 897
  • Summitt R. L., Hiatt R. L. Hypohidrotic ectodermal dysplasia with multiple associated anomalies. Birth Defects 1971; 7(8)121
  • Taylor A. I. Autosomal trisomy syndromes. A detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet 1968; 5: 277
  • Terheggen H. G., Pfeiffer R. A., Haug H., Hertl M., Diggins A., Schünke W. Das XXXXY Syndrom. Bericht über 7 neue Fälle und Literaturübersicht. Z Kinderheilk 1973; 115: 209
  • Tost M. Beitrag zur Dysplasie oculo-auriculo-verte-bralis. Klin Mbl Augenheilk 1969; 154: 183
  • Tumba A. Le phenotype XXXXY. J Génét hum 1972; 20: 9
  • Wiegmann O. A., Walker F. A. The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediat Ophthal 1970; 7: 79

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