메뉴 건너뛰기




Volumn 143, Issue 24, 2007, Pages 3069-3078

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Author keywords

Acromelic dysplasia; Facial clefting; Hypertelorism; Oculo auriculo fronto nasal syndrome

Indexed keywords

CHROMOSOME ABERRATION; CLINICAL FEATURE; CONFERENCE PAPER; CRANIOFACIAL MALFORMATION; DEMOGRAPHY; DISEASE SEVERITY; FRONTONASAL DYSPLASIA; GENE MUTATION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

EID: 37249002800     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31963     Document Type: Conference Paper
Times cited : (41)

References (74)
  • 2
  • 3
    • 0027522887 scopus 로고
    • Median cleft of the lip: Its significance and surgical repair
    • Apesos J, Anigian GM. 1993. Median cleft of the lip: Its significance and surgical repair. Cleft Palate Craniofac J 30:94-96.
    • (1993) Cleft Palate Craniofac J , vol.30 , pp. 94-96
    • Apesos, J.1    Anigian, G.M.2
  • 4
    • 0032846175 scopus 로고    scopus 로고
    • A female patient with frontonasal dysplasia sequence and frontonasal encephalocele
    • Balci S, Mavili ME, Son YA, Vargel I, Benli K, Erk Y. 1999. A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. Ann Plast Surg 43:457-459.
    • (1999) Ann Plast Surg , vol.43 , pp. 457-459
    • Balci, S.1    Mavili, M.E.2    Son, Y.A.3    Vargel, I.4    Benli, K.5    Erk, Y.6
  • 5
    • 0029806515 scopus 로고    scopus 로고
    • Frontonasal malformation and the oculoauriculovertebral spectmm: The oculoauriculofrontonasal syndrome
    • Casey HD, Braddock SR, Haskins RC, Carey JC, Morales L Jr. 1996. Frontonasal malformation and the oculoauriculovertebral spectmm: The oculoauriculofrontonasal syndrome. Cleft Palate Craniofac J 33:519-523.
    • (1996) Cleft Palate Craniofac J , vol.33 , pp. 519-523
    • Casey, H.D.1    Braddock, S.R.2    Haskins, R.C.3    Carey, J.C.4    Morales Jr., L.5
  • 6
    • 0028455629 scopus 로고
    • An approach to work-up of dysmorphic patients: Clinical, cytogenetic, and molecular aspects
    • Chen H. 1994. An approach to work-up of dysmorphic patients: Clinical, cytogenetic, and molecular aspects. Keio J Med 43:98-107.
    • (1994) Keio J Med , vol.43 , pp. 98-107
    • Chen, H.1
  • 7
    • 0037566576 scopus 로고    scopus 로고
    • Pai syndrome: An adult patient with bifid nose and frontal hairline marker
    • Coban YK, Boran C, Omeroglu SA, Okur E. 2003. Pai syndrome: An adult patient with bifid nose and frontal hairline marker. Cleft Palate Craniofac J 40:325-328.
    • (2003) Cleft Palate Craniofac J , vol.40 , pp. 325-328
    • Coban, Y.K.1    Boran, C.2    Omeroglu, S.A.3    Okur, E.4
  • 8
    • 0018636142 scopus 로고
    • Craniofrontonasal dysplasia
    • Cohen MM Jr. 1979. Craniofrontonasal dysplasia. Birth Defects 15:85-89.
    • (1979) Birth Defects , vol.15 , pp. 85-89
    • Cohen Jr., M.M.1
  • 9
  • 11
    • 0023143520 scopus 로고
    • Frontonasal dysplasia associated with tetralogy of Fallot
    • De Moor MM, Baruch R, Human DG. 1987. Frontonasal dysplasia associated with tetralogy of Fallot. J Med Genet 24:107-109.
    • (1987) J Med Genet , vol.24 , pp. 107-109
    • De Moor, M.M.1    Baruch, R.2    Human, D.G.3
  • 12
    • 0014136944 scopus 로고
    • The median cleft face syndrome
    • DeMyer W. 1967. The median cleft face syndrome. Neurology 17:961-971.
    • (1967) Neurology , vol.17 , pp. 961-971
    • DeMyer, W.1
  • 13
    • 0034637062 scopus 로고    scopus 로고
    • The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: A case report with CT scan findings and review of literature
    • Dubey SP, Garap JP. 2000. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: A case report with CT scan findings and review of literature. Int J Pediatr Otorhinolaryngol 54:51-57.
    • (2000) Int J Pediatr Otorhinolaryngol , vol.54 , pp. 51-57
    • Dubey, S.P.1    Garap, J.P.2
  • 14
    • 0038876058 scopus 로고
    • Tibial deficiency, hallucal Polydactyly, and uplifted slit-like nares in frontonasal dysplasia: A specific clinical phenotype with significant genetic implications
    • Birmingham, June 13-16
    • Eilers BLC, Falace PB, Bowles BE, Hall BD. 1982. Tibial deficiency, hallucal Polydactyly, and uplifted slit-like nares in frontonasal dysplasia: A specific clinical phenotype with significant genetic implications. March of Dimes Birth Defects Conference, Birmingham, June 13-16.
    • (1982) March of Dimes Birth Defects Conference
    • Eilers, B.L.C.1    Falace, P.B.2    Bowles, B.E.3    Hall, B.D.4
  • 15
    • 0029903740 scopus 로고    scopus 로고
    • Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly
    • Erdogan B, Akoz T, Gorgu M, Kutlay R, Dag Fl. 1996. Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly. Am J Med Genet 65:222-225.
    • (1996) Am J Med Genet , vol.65 , pp. 222-225
    • Erdogan, B.1    Akoz, T.2    Gorgu, M.3    Kutlay, R.4    Dag, F.5
  • 16
    • 0014531282 scopus 로고
    • Goldenhar syndrom und Kiefermissbildungen
    • Fleischer-Peters A. 1969. Goldenhar syndrom und Kiefermissbildungen. Dtsch Zahnarztl Z 24:545-551.
    • (1969) Dtsch Zahnarztl Z , vol.24 , pp. 545-551
    • Fleischer-Peters, A.1
  • 17
    • 0020954093 scopus 로고
    • La dysplasie frontonasale (a propos de quatre observations)
    • Fontaine G, Walbaum R, Poupard B. 1983. La dysplasie frontonasale (a propos de quatre observations). J Génét Hum 32:351-356.
    • (1983) J Génét Hum , vol.32 , pp. 351-356
    • Fontaine, G.1    Walbaum, R.2    Poupard, B.3
  • 18
    • 0017187350 scopus 로고
    • Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction
    • Fox JW, Golden GT, Edgerton MT. 1976. Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction. Plast Reconstr Surg 57:553-561.
    • (1976) Plast Reconstr Surg , vol.57 , pp. 553-561
    • Fox, J.W.1    Golden, G.T.2    Edgerton, M.T.3
  • 19
    • 0030042814 scopus 로고    scopus 로고
    • Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome)
    • Frattarelli JL, Boley TJ, Miller RA. 1996. Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome). J Ultrasound Med 15:81-83.
    • (1996) J Ultrasound Med , vol.15 , pp. 81-83
    • Frattarelli, J.L.1    Boley, T.J.2    Miller, R.A.3
  • 20
    • 0027182358 scopus 로고
    • Frontonasal dysplasia in two successive generations
    • Fryburg JS, Persing JA, Lin KY. 1993. Frontonasal dysplasia in two successive generations. Am J Med Genet 46:712-714.
    • (1993) Am J Med Genet , vol.46 , pp. 712-714
    • Fryburg, J.S.1    Persing, J.A.2    Lin, K.Y.3
  • 21
    • 0027217105 scopus 로고
    • Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)
    • Fryns JP, Kleczkowska A, van den Berghe H. 1993. Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13). Clin Genet 44:46-47.
    • (1993) Clin Genet , vol.44 , pp. 46-47
    • Fryns, J.P.1    Kleczkowska, A.2    van den Berghe, H.3
  • 23
    • 0036679939 scopus 로고    scopus 로고
    • A mild case of frontonasal dysplasia: The rhinologic perspective
    • Gene E, Derbent M, Ergin NT. 2002. A mild case of frontonasal dysplasia: The rhinologic perspective. Int J Pediatr Otorhinolaryngol 65:75-83.
    • (2002) Int J Pediatr Otorhinolaryngol , vol.65 , pp. 75-83
    • Gene, E.1    Derbent, M.2    Ergin, N.T.3
  • 24
    • 0000535856 scopus 로고
    • A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: The oculoauriculofrontonasal syndrome. Two new cases in sibs
    • Golabi M, Gonzales MC, Edwards MS. 1983. A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: The oculoauriculofrontonasal syndrome. Two new cases in sibs. Birth Defects 19:183-184.
    • (1983) Birth Defects , vol.19 , pp. 183-184
    • Golabi, M.1    Gonzales, M.C.2    Edwards, M.S.3
  • 26
    • 0033106858 scopus 로고    scopus 로고
    • Frontonasal dysplasia with corpus callosum lipoma
    • Grover SB, Charan KA, Saxena NC. 1999. Frontonasal dysplasia with corpus callosum lipoma. Indian Pediatr 36:398-401.
    • (1999) Indian Pediatr , vol.36 , pp. 398-401
    • Grover, S.B.1    Charan, K.A.2    Saxena, N.C.3
  • 27
    • 0031722883 scopus 로고    scopus 로고
    • Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation
    • Guerrini R, Dobyns WB. 1998. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology 51:499-503.
    • (1998) Neurology , vol.51 , pp. 499-503
    • Guerrini, R.1    Dobyns, W.B.2
  • 28
    • 0142075855 scopus 로고    scopus 로고
    • Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: Report on a male patient
    • Guion-Almeida ML, da Silva Lopes VL. 2003. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: Report on a male patient. Clin Dysmorphol 12:233-236.
    • (2003) Clin Dysmorphol , vol.12 , pp. 233-236
    • Guion-Almeida, M.L.1    da Silva Lopes, V.L.2
  • 29
    • 0030785771 scopus 로고    scopus 로고
    • Oculoauriculofrontonasal spectrum in an adult Brazilian male
    • Guion-Almeida ML, Lopes VL. 1997. Oculoauriculofrontonasal spectrum in an adult Brazilian male. Clin Dysmorphol 6:251-255.
    • (1997) Clin Dysmorphol , vol.6 , pp. 251-255
    • Guion-Almeida, M.L.1    Lopes, V.L.2
  • 30
    • 0026643933 scopus 로고
    • Acrocallosal syndrome: Report of a Brazilian girl
    • Guion-Almeida ML, Richieri-Costa A. 1992. Acrocallosal syndrome: Report of a Brazilian girl. Am J Med Genet 43:938-941.
    • (1992) Am J Med Genet , vol.43 , pp. 938-941
    • Guion-Almeida, M.L.1    Richieri-Costa, A.2
  • 31
    • 0033008615 scopus 로고    scopus 로고
    • Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
    • Guion-Almeida ML, Richieri-Costa A. 1999. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol 8:1-4.
    • (1999) Clin Dysmorphol , vol.8 , pp. 1-4
    • Guion-Almeida, M.L.1    Richieri-Costa, A.2
  • 32
    • 0035079674 scopus 로고    scopus 로고
    • Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: Defining the phenotype
    • Guion-Almeida ML, Richieri-Costa A. 2001. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: Defining the phenotype. Clin Dysmorphol 10:81-86.
    • (2001) Clin Dysmorphol , vol.10 , pp. 81-86
    • Guion-Almeida, M.L.1    Richieri-Costa, A.2
  • 34
    • 37249087184 scopus 로고    scopus 로고
    • Pai syndrome: Report of seven South American patients. Am J Med Genet Part A
    • in press
    • Guion-Almeida ML, Mellado C, Beltran C, Richiero-Costa A. 2007. Pai syndrome: Report of seven South American patients. Am J Med Genet Part A (in press).
    • (2007)
    • Guion-Almeida, M.L.1    Mellado, C.2    Beltran, C.3    Richiero-Costa, A.4
  • 36
    • 3342986374 scopus 로고    scopus 로고
    • Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
    • Hing AV, Syed N, Cunningham ML. 2004. Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance. Am J Med Genet Part A 128A:374-382.
    • (2004) Am J Med Genet , vol.128 A , Issue.PART A , pp. 374-382
    • Hing, A.V.1    Syed, N.2    Cunningham, M.L.3
  • 37
    • 0032749014 scopus 로고    scopus 로고
    • The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
    • Hu D, Helms JA. 1999. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126:4873-4884.
    • (1999) Development , vol.126 , pp. 4873-4884
    • Hu, D.1    Helms, J.A.2
  • 39
    • 0034923680 scopus 로고    scopus 로고
    • Hair follicle nevus occurring in frontonasal dysplasia: An electron microscopic observation
    • Kuwahara H, Lao LM, Kiyohara T, Kumakiri M, Igawa H. 2001. Hair follicle nevus occurring in frontonasal dysplasia: An electron microscopic observation. J Dermatol 28:324-328.
    • (2001) J Dermatol , vol.28 , pp. 324-328
    • Kuwahara, H.1    Lao, L.M.2    Kiyohara, T.3    Kumakiri, M.4    Igawa, H.5
  • 40
    • 0020511874 scopus 로고
    • Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial Polydactyly and split nails: A new autosomal dominant mettant with reduced penetrance and variable expression?
    • Kwee ML, Lindhout D. 1983. Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial Polydactyly and split nails: A new autosomal dominant mettant with reduced penetrance and variable expression? Clin Genet 24:200-205.
    • (1983) Clin Genet , vol.24 , pp. 200-205
    • Kwee, M.L.1    Lindhout, D.2
  • 42
    • 0029665981 scopus 로고    scopus 로고
    • Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity
    • Leiten RJ, Winter RM. 1996. Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. Acta Ophthalmol Scand Suppl 219:16-19.
    • (1996) Acta Ophthalmol Scand , Issue.SUPPL. 219 , pp. 16-19
    • Leiten, R.J.1    Winter, R.M.2
  • 43
    • 0028088752 scopus 로고
    • Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants
    • Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A, Gorry P, Gansmuller A, Chambon P. 1994. Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants. Development 120:2723-2748.
    • (1994) Development , vol.120 , pp. 2723-2748
    • Lohnes, D.1    Mark, M.2    Mendelsohn, C.3    Dolle, P.4    Dierich, A.5    Gorry, P.6    Gansmuller, A.7    Chambon, P.8
  • 44
  • 45
    • 2442690674 scopus 로고    scopus 로고
    • Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs
    • Lopes VL, Guion-Almeida ML, Giffoni SD. 2004. Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. Clin Dysmorphol 13:35-37.
    • (2004) Clin Dysmorphol , vol.13 , pp. 35-37
    • Lopes, V.L.1    Guion-Almeida, M.L.2    Giffoni, S.D.3
  • 46
    • 0036116477 scopus 로고    scopus 로고
    • Prenatal ultrasound diagnosis of frontonasal dysplasia
    • Martinelli P, Russo R, Agangi A, Paladini D. 2002. Prenatal ultrasound diagnosis of frontonasal dysplasia. Prenat Diagn 22:375-379.
    • (2002) Prenat Diagn , vol.22 , pp. 375-379
    • Martinelli, P.1    Russo, R.2    Agangi, A.3    Paladini, D.4
  • 47
    • 0030729314 scopus 로고    scopus 로고
    • Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;l6)(q28;q11.2)
    • Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y. 1997. Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;l6)(q28;q11.2). J Med Genet 34:952-954.
    • (1997) J Med Genet , vol.34 , pp. 952-954
    • Masuno, M.1    Imaizumi, K.2    Fukushima, Y.3    Tanaka, Y.4    Ishii, T.5    Nakamura, M.6    Kuroki, Y.7
  • 48
    • 0033957470 scopus 로고    scopus 로고
    • Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Another observation
    • Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. 2000. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Another observation. Clin Dysmorphol 9:59-60.
    • (2000) Clin Dysmorphol , vol.9 , pp. 59-60
    • Masuno, M.1    Imaizumi, K.2    Aida, N.3    Nishimura, G.4    Kimura, J.5    Kuroki, Y.6
  • 49
    • 0141960045 scopus 로고    scopus 로고
    • Frontonasal dysplasia in 3H1 Br/Br mice. Anat Rec A Discov Mol Cell
    • McBratney BM, Margaryan E, Ma W, Urban Z, Lozanoff S. 2003. Frontonasal dysplasia in 3H1 Br/Br mice. Anat Rec A Discov Mol Cell Evol Biol 271:291-302.
    • (2003) Evol Biol , vol.271 , pp. 291-302
    • McBratney, B.M.1    Margaryan, E.2    Ma, W.3    Urban, Z.4    Lozanoff, S.5
  • 50
    • 0027284051 scopus 로고
    • Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot
    • Meguid NA. 1993. Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot. Clin Genet 44:95-97.
    • (1993) Clin Genet , vol.44 , pp. 95-97
    • Meguid, N.A.1
  • 51
    • 0024312282 scopus 로고
    • Frontonasal dysplasia, congenital heart defect, and short stature: A further observation
    • Meinecke P, Blunck W. 1989. Frontonasal dysplasia, congenital heart defect, and short stature: A further observation. J Med Genet 26:408-409.
    • (1989) J Med Genet , vol.26 , pp. 408-409
    • Meinecke, P.1    Blunck, W.2
  • 53
    • 7444260682 scopus 로고    scopus 로고
    • Monozygotic twins discordant for frontonasal malformation
    • Mohammed SN, Swan MC, Wall SA, Wilkie AO. 2004. Monozygotic twins discordant for frontonasal malformation. Am J Med Genet Part A 130A:384-388.
    • (2004) Am J Med Genet , vol.130 A , Issue.PART A , pp. 384-388
    • Mohammed, S.N.1    Swan, M.C.2    Wall, S.A.3    Wilkie, A.O.4
  • 54
    • 0022939118 scopus 로고
    • A patient with median cleft face anomaly and bilateral Goldenhar anomaly
    • Musarella MA, Young ID. 1986. A patient with median cleft face anomaly and bilateral Goldenhar anomaly. Am J Med Genet 2:135-141.
    • (1986) Am J Med Genet , vol.2 , pp. 135-141
    • Musarella, M.A.1    Young, I.D.2
  • 55
    • 0033607473 scopus 로고    scopus 로고
    • Frontonasal dysostosis in two successive generations
    • Nevin NC, Leonard AG, Jones B. 1999. Frontonasal dysostosis in two successive generations. Am J Med Genet 87:251-253.
    • (1999) Am J Med Genet , vol.87 , pp. 251-253
    • Nevin, N.C.1    Leonard, A.G.2    Jones, B.3
  • 56
    • 0023213378 scopus 로고
    • Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps
    • Pai GS, Levkoff AH, Leithiser RE Jr. 1987. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet 26:921-924.
    • (1987) Am J Med Genet , vol.26 , pp. 921-924
    • Pai, G.S.1    Levkoff, A.H.2    Leithiser Jr., R.E.3
  • 58
    • 0025081891 scopus 로고
    • Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?
    • Reardon W, Temple IK, Jones B, Baraitser M. 1990. Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Clin Genet 38:233-236.
    • (1990) Clin Genet , vol.38 , pp. 233-236
    • Reardon, W.1    Temple, I.K.2    Jones, B.3    Baraitser, M.4
  • 59
    • 33750578752 scopus 로고    scopus 로고
    • The Syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies-Phenotypic and aetiological considerations
    • Richieri-Costa A, Guion-Almeida ML. 2004. The Syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies-Phenotypic and aetiological considerations. Int J Med Sci 1:34-42.
    • (2004) Int J Med Sci , vol.1 , pp. 34-42
    • Richieri-Costa, A.1    Guion-Almeida, M.L.2
  • 60
    • 0028238069 scopus 로고
    • A further patient with Pai syndrome with autosomal dominant inheritance?
    • Rudnik-Schoneborn S, Zerres K. 1994. A further patient with Pai syndrome with autosomal dominant inheritance? J Med Genet 31:497-498.
    • (1994) J Med Genet , vol.31 , pp. 497-498
    • Rudnik-Schoneborn, S.1    Zerres, K.2
  • 62
    • 0023898135 scopus 로고
    • Frontonasal malformation as a field defect and in syndromic associations
    • Sedano HO, Gorlin RJ. 1988. Frontonasal malformation as a field defect and in syndromic associations. Oral Surg Oral Med Oral Pathol 65:704-710.
    • (1988) Oral Surg Oral Med Oral Pathol , vol.65 , pp. 704-710
    • Sedano, H.O.1    Gorlin, R.J.2
  • 65
    • 0028961693 scopus 로고
    • Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11
    • Stevens CA, Qumsiyeh MB. 1995. Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11. Am J Med Genet 55:494-497.
    • (1995) Am J Med Genet , vol.55 , pp. 494-497
    • Stevens, C.A.1    Qumsiyeh, M.B.2
  • 66
    • 0031004202 scopus 로고    scopus 로고
    • Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11
    • Stratton RF, Payne RM. 1997. Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11. Am J Med Genet 69:287-289.
    • (1997) Am J Med Genet , vol.69 , pp. 287-289
    • Stratton, R.F.1    Payne, R.M.2
  • 67
    • 0027253535 scopus 로고
    • Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial Polydactyly of feet: Severe expression of the acrocallosal syndrome?
    • Sueldo G, Fernandes MC. 1993. Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial Polydactyly of feet: Severe expression of the acrocallosal syndrome? Am J Med Genet 46:355-357.
    • (1993) Am J Med Genet , vol.46 , pp. 355-357
    • Sueldo, G.1    Fernandes, M.C.2
  • 68
    • 23244439562 scopus 로고    scopus 로고
    • Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): A case report and literature review
    • Szeto C, Tewfik TL, Jewer D, Rideout A. 2005. Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): A case report and literature review. Int J Pediatr Otorhinolaryngol 69:1247-1252.
    • (2005) Int J Pediatr Otorhinolaryngol , vol.69 , pp. 1247-1252
    • Szeto, C.1    Tewfik, T.L.2    Jewer, D.3    Rideout, A.4
  • 70
    • 0022946296 scopus 로고
    • Frontonasal "dysplasia," cerebral anomalies, and Polydactyly: Report of a new syndrome and discussion from a developmental field perspective
    • Toriello HV, Radecki LL, Sharda J, Looyenga D, Mann R. 1986. Frontonasal "dysplasia," cerebral anomalies, and Polydactyly: Report of a new syndrome and discussion from a developmental field perspective. Am J Med Genet 2:89-96.
    • (1986) Am J Med Genet , vol.2 , pp. 89-96
    • Toriello, H.V.1    Radecki, L.L.2    Sharda, J.3    Looyenga, D.4    Mann, R.5
  • 71
    • 0028862463 scopus 로고
    • Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis
    • Toriello HV, Higgins JV, Mann R. 1995. Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis. Clin Dysmorphol 4:338-346.
    • (1995) Clin Dysmorphol , vol.4 , pp. 338-346
    • Toriello, H.V.1    Higgins, J.V.2    Mann, R.3
  • 73
    • 0026598703 scopus 로고
    • Acromelic frontonasal "dysplasia": Further delineation of a subtype with brain malformation and Polydactyly (Toriello syndrome)
    • Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. 1992. Acromelic frontonasal "dysplasia": Further delineation of a subtype with brain malformation and Polydactyly (Toriello syndrome). Am J Med Genet 42:180-183.
    • (1992) Am J Med Genet , vol.42 , pp. 180-183
    • Verloes, A.1    Gillerot, Y.2    Walczak, E.3    Van Maldergem, L.4    Koulischer, L.5
  • 74
    • 0015720823 scopus 로고
    • Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling
    • Warkany J, Bofinger MK, Benton C. 1973. Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. Teratology 8:273-285.
    • (1973) Teratology , vol.8 , pp. 273-285
    • Warkany, J.1    Bofinger, M.K.2    Benton, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.