The Pittsburgh Oral-Facial Cleft study: Expanding the cleft phenotype. Background and justification

Cleft Palate-Craniofacial Journal

Volumn 43, Issue 1, 2006, Pages 7-20

  Weinberg, Seth M ^a,b   Neiswanger, Katherine ^b   Martin, Rick A ^c   Mooney, Mark P ^a,d,e   Kane, Alex A ^a,c,f,g   Wenger, Sharon L ^h   Losee, Joseph ^e,i   Deleyiannis, Frederick ^e   Ma, Lian ^j   De Salamanca, Javier E ^k   Czeizel, Andrew E ^a,l   Marazita, Mary L ^b,d,e,m,n,o  

^a Department of Anthropology ^*  (Hungary)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF COLORADO ANSCHUTZ MEDICAL CAMPUS   (United States)

^e UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^f Cleft Palate and Cranofacial Deformities Institute

^g WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Pediatric Plastic Surgery   (United States)

ⁱ CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^j PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

^k HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^l FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

^m Division of Oral Biology   (United States)

ⁿ Center for Craniofacial and Dental Genetics   (United States)

^o GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

more..

Author keywords

Associated anomalies; Cleft lip; Cleft lip and palate; Phenotype; Unaffected relatives

Indexed keywords

BRAIN MALFORMATION; CLEFT FACE; CLEFT LIP; CLEFT LIP PALATE; CLEFT PALATE; CRANIOFACIAL MORPHOLOGY; GENETIC ANALYSIS; HUMAN; MUSCLE DISEASE; ORBICULARIS ORIS MUSCLE; PALATOPHARYNGEAL INCOMPETENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RIGHT HANDEDNESS; TOOTH MALFORMATION; VERTEBRA MALFORMATION;

ABNORMALITIES; BRAIN; CEPHALOMETRY; CLEFT LIP; CLEFT PALATE; DERMATOGLYPHICS; FACIAL MUSCLES; FUNCTIONAL LATERALITY; HUMANS; PENNSYLVANIA; PHENOTYPE; SPINE; TOOTH ABNORMALITIES; VELOPHARYNGEAL INSUFFICIENCY;

EID: 32044438969     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/04-122R1.1     Document Type: Review

References (228)

1. Aase JM. Diagnostic Dysmorphology. New York: Plenum; 1990.
2. Adams MS, Niswander JD. Developmental 'noise' and a congenital malformation. Genet Res. 1967;10:313-317.
3. Al-Emran SES, Fatani E, Hassanain JE. Craniofacial variability in parents of children with cleft lip and cleft palate. J Clin Pediatr Dent. 1999;23:337-341.
4. Anderson PJ, Moss ALH. Dental findings in parents of children with cleft lip and palate. Cleft Palate Craniofac J. 1996;33:436-439.
5. Andres R, Bixler D, Shanks JC, Smith WL. Dominant inheritance of velopharyngeal incompetence. Clin Genet. 1981;19:443-447.
6. Azumi J, Shiono H. Dermatoglyphic diagnosis of patients with cleft lip, palate [in Japanese]. Nihonijishinpo. 1966;2900:43-44.
7. Babler WJ. Prenatal selection and dermatoglyphic patterns. Am J Phys Anthropol. 1978;48:21-28.
8. Babler WJ. Embryonic development of epidermal ridges and their configurations. In: Plato CC, Garruto RM, Schaumann BA, eds. Dermatoglyphics: Science in Transition. New York: Wiley-Liss; 1991:95-112.
9. Bailit HL, Doykos JD, Swanson LT. Dental development in children with cleft palates. J Dent Res. 1968;47:664.
10. Balgir RS. Dermatoglyphics in cleft lip and cleft palate anomalies. Indian Pediatr. 1993;30:341-346.
11. Becker M, Svensson H, Källen B. Birth weight, body length and cranial circumference in newborns with cleft lip or palate. Cleft Palate Craniofac J. 1998;35:255-261.
12. Bishara SE, Krause CJ, Olin WH, Weston D, Ness JV, Felling C. Facial and dental relationships of individuals with unoperated clefts of the lip and/or palate. Cleft Palate J. 1976;13:238-252.
13. Bishop CE. Handedness and Developmental Disorder. London: MacKeith Press; 1990.
14. Böhn A. Dental anomalies in harelip and cleft palate. Acta Odontol Scand. 1963;38(suppl):1-109.
15. Bokhari A, Coull BA, Holmes LB. Effect of prenatal exposure to anticonvulsant drugs on dermal ridge patterns of fingers. Teratology. 2002;66:19-23.
16. Boorman CJ, Shimeld SM. The evolution of left-right asymmetry in chordates. Bioessays. 2002;24:1004-1011.
17. Boorman JG, Varma S, Ogilvie CM. Velopharyngeal incompetence and chromosome 22q11 deletion. Lancet. 2001;357:774.
18. Capelozza L, Taniguchi SM, Silva OG. Craniofacial morphology of adult unoperated complete unilateral cleft lip and palate patients. Cleft Palate Craniofac J. 1993;30:376-381.
19. Chong SS, Cheah FSH, Jabs EW. Genes implicated in lip and palate development. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002:25-39.
20. Christensen K, Fogh-Andersen P. Cleft lip (± cleft palate) in Danish twins, 1970-1990. Am J Med Genet. 1993;47:910-916.
21. Chung CS, Bixler D, Watanabe T, Koguchi H, Fogh-Andersen P. Segregation analysis of cleft Hp with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet. 1986;39:603-611.
22. Coccaro PJ, D'Amico R, Chavoor A. Craniofacial morphology of parents with and without cleft lip and palate children. Cleft Palate J. 1972;9:28-38.
23. Cohney BC. The association of cleft palate with the Klippel-Feil syndrome. Plast Reconstr Surg. 1963;31:179-187.
24. Crawford FC, Sofaer JA. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition. J Med Genet. 1987;24:163-169.
25. Czeizel AE, Telegdi L, Tusnády G. Multiple Congenital Abnormalities. Budapest: Akadémiai Kiado; 1988.
26. Czeizel AE, Tusnády G. An epidemiological study of cleft lip with or without cleft palate and posterior cleft palate in Hungary. Hum Hered. 1971;21:17-38.
27. Daskalogiannakis J, Kuntz KL, Chudley AE, Ross RB. Unilateral cleft lip with or without cleft palate and handedness: is there an association? Cleft Palate Craniofac J. 1998;35:46-51.
28. De Bie S, Hayashi M, Matton MT, Matton G, Vrijdahg S, Lejour M, Buts R, Castermans A. Dermatoglyphic analysis of primary and secondary cleft palate patients. Cleft Palate J. 1977;14:222-225.
29. Deshmukh RN, Grewal MS, Sidhu SS. Dermatoglyphics in cleft lip and palate anomaly: familial and teratogenic groups. Indian J Med Res. 1979;70:814-818.
30. Deshmukh RN, Grewal MS, Sidhu SS. Cleft lip with or without cleft palate and isolated cleft palate, as two aetiological entities-a dermatoglyphic evidence. Indian J Med Res. 1981;73:584-589.
31. Diewert VM, Shiota K. Morphological observations in normal primary palate and cleft lip embryos in the Kyoto collection. Teratology. 1990;41:663-677.
32. Dixon DA. Abnormalities of the teeth and supporting structures in children with clefts of lip and palate. In: Drillien CM, Ingram TTS, Wilkinson EM, eds. The Causes and Natural History of Cleft Up and Palate. Edinburgh: E & S Livingstone; 1966:178-205.
33. Dixon DA. Defects of structure and formation of the teeth in persons with cleft palate and the effect of reparative surgery on the dental tissues. Oral Surg Oral Med Oral Pathol. 1968;25:435-446.
34. Duncan PA, Shapiro LR, Soley RL, Turet SE. Linear growth patterns in patients with cleft lip or palate or both. Am J Dis Child. 1983;137:159-163.
35. Eerens K, Vlietinck R, Heidbuchel K, Van Olmen A, Derom C, Willems G, Carels C. Hypodontia and tooth formation in groups of children with cleft, siblings without cleft, and nonrelated controls. Cleft Palate Craniofac J. 2001;38:374-378.
36. Enlow DH. Facial Growth. Philadelphia: WB Saunders; 1990.
37. Erickson JD. Facial and oral form in sibs of children with cleft lip with or without cleft palate. Ann Hum Genet. 1974;38:77-88.
38. Farkas LG, Cheung GC. Nostril asymmetry: microform of cleft lip palate? An anthropometrical study of healthy North American Caucasians. Cleft Palate J. 1979;16:351-357.
39. Farkas LG, Hajnis K, Posnick JC. Anthropometric and anthroposcopic findings of the nasal and facial region in cleft patients before and after primary lip and palate repair. Cleft Palate Craniofac J. 1993;30:1-12.
40. Fergusson W. Lectures on the Progress of Anatomy and Surgery. London: Churchill; 1867.
41. Ferrario VF, Sforza C, Dellavia C, Tartaglia GM, Colombo A, Caru A. A quantitative three-dimensional assessment of soft tissue asymmetry of cleft lip and palate adult patients. J Craniofac Surg. 2003;14:739-746.
42. Firman RC, Simmons LW, Cummins JM, Matson PL. Are body fluctuating asymmetry and the ratio of 2nd to 4th digit length reliable predictors of semen quality? Hum Reprod. 2003;18:808-812.
43. Fogh-Andersen P. Increasing incidence of facial clefts: genetically or non-genetically determined. In: Longacre JJ, ed. Craniofacial Anomalies: Pathogenesis and Repair. Philadelphia: Lippincott; 1968:27-29.
44. Fogh-Andersen P. Epidemiology and etiology of clefts. Birth Defects Orig Artic Ser. 1971;7:50-53.
45. Foster TD, Lavelle CLB. The size of the dentition in complete cleft lip and palate. Cleft Palate J. 1971;8:177-184.
46. Francis-West P, Ladher R, Barlow A, Graveson A. Signaling interactions during facial development. Mech Dev. 1998;75:3-28.
47. Fraser FC. Developmental instability and fluctuating asymmetry in man. In: Markow TA, ed. Developmental Instability: Its Origins and Evolutionary Implications. Dordrecht: Kluwer Academic Publishers; 1994:319-334.
48. Fraser FC, Pashayan H. Relation of face shape to susceptibility to congenital cleft lip. J Med Genet. 1970;7:112-117.
49. Fraser FC, Rex A. Excess of parental non-righthandedness in children with right-sided cleft lip: a preliminary report. J Craniofac Genet Dev Biol Suppl. 1985;1:85-88.
50. Fukuhara T. Nostril asymmetry-a microform of cleft lip and palate. Showa Shigakkai Zasshi. 1987;7:141-146.
51. Furlow FB, Armijo-Prewitt T, Gangestad SW, Thornhill R. Fluctuating asymmetry and psychometric intelligence. Proc R Soc Lond B Biol Sci. 1997;264:823-829.
52. Gourion D, Goldberger C, Bourdel MC, Bayle FJ, Loo H, Krebs MO. Minor physical anomalies in patients with schizophrenia and their parents: prevalence and pattern of craniofacial abnormalities. Psychiatry Res. 2004;125:21-28.
53. Green MF, Bracha HS, Satz P, Christenson CD. Preliminary evidence for an association between minor physical anomalies and second trimester neurodevelopment in schizophrenia. Psychiatry Res. 1994;53:119-127.
54. Haines JL, Pericak-Vance MA. Overview of mapping common and genetically complex human disease genes. In: Haines JL, Pericak-Vance MA, eds. Approaches to Gene Mapping in Complex Human Diseases. New York: Wiley-Liss; 1998:1-16.
55. Hansen K, Mehdinia M. Isolated soft tissue cleft lip: the influence on the nasal cavity and supernumerary laterals. Cleft Palate Craniofac J. 2002;39:322-326.
56. Haria S, Noar JH, Sanders R. An investigation of the dentition of parents of children with cleft lip and palate. Cleft Palate Craniofac J. 2000;37:395-405.
57. Harris EF. Dental development and anomalies in craniosynostoses and facial clefting. In: Mooney MP, Siegel MI, eds. Understanding Craniofacial Anomalies: The Etiopathogenesis and Craniosynostoses and Facial Clefting. New York: Wiley-Liss; 2002:425-467.
58. Harris EF, Hullings JG. Delayed dental development in children with isolated cleft lip and palate. Arch Oral Biol. 1990;35:469-473.
59. Hennessy RJ, Lane A, Kinsella A, Larkin C, O'Callaghan E, Waddington JL. 3D morphometrics of craniofacial dysmorphology reveals sex-specific asymmetries in schizophrenia. Schizophr Res. 2004;67:261-268.
60. Hoenig JF, Schoener WF. Radiological survey of the cervical spine in cleft lip and palate. Dentomaxillofac Radiol. 1992;21:36-39.
61. Horswell BB. The incidence and relationship of cervical spine anomalies in patients with cleft lip and/or palate. J Oral Maxillofac Surg. 1991;49:693-697.
62. Hoyme HE. Minor anomalies: diagnostic clues to aberrant human morphogenesis. Genetica. 1993;89:307-315.
63. Ismail B, Cantor-Graae E, McNeil TF. Minor physical anomalies in schizophrenic patients and their siblings. Am J Psychiatry. 1998;155:1695-1702.
64. Jakšić N, Scepan I, Glisic B, Stamenic E, Stamenkovic Z. Mesiodistal size of deciduous teeth in subjects with unilateral cleft lip and palate. Orthod Craniofacial Res. 2002;5:17-21.
65. Jeffery SLA, Boorman JG. Left or right hand dominance in children with cleft lip and palate. Br J Plast Surg. 2000;53:477-478.
66. Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003;40:399-407.
67. Jiroutova O. Hypodontia in patients with isolated cleft palate, its relationship to etiopathogenesis. Acta Chir Plast. 1991;33:57-63.
68. Jones KL. Smith's Recognizable Patterns of Human Malformation. Philadelphia: WB Saunders; 1997.
69. Jordan R, Kraus B, Neptune C. Dental abnormalities associated with cleft lip and/or palate. Cleft Palate J. 1966;3:22-55.
70. Kanematsu N, Yoshida Y, Kishi N, Kowata K, Kaku M, Maeda K, Taoka M. Study on abnormalities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate. J Maxillofac Surg. 1986;14:74-82.
71. Kieser JA, Groeneveld HT, Da Silva PCF. Dental asymmetry, maternal obesity, and smoking. Am J Phys Anthropol. 1997;102:133-139.
72. Kjaer I. Prenatal traces of aberrant neurofacial growth. Acta Odontol Scand. 1998;56:326-330.
73. Klar AJ. Human handedness and scalp hair-whorl direction develop from a common genetic mechanism. Genetics. 2003;165:269-276.
74. Kobyliansky E, Bejerano M, Yakovenko K, Katznelson MB. Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 6: dermatoglyphic peculiarities of males and females with cleft lip (with or without cleft palate) and cleft palate-family study. Coll Antropol. 1999;23:1-15.
75. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002;32:285-289.
76. Kraus BS, Jordan RE, Pruzansky S. Dental abnormalities in the deciduous and permanent dentition of individuals with cleft lip and palate. J Dent Res. 1966;45:1736-1746.
77. Kreiborg S, Hermann NV. Craniofacial morphology and growth in infants and young children with cleft lip and palate. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002:87-97.
78. Kurisu K, Niswander JD, Johnston MC, Mazaheri M. Facial morphology as an indicator of genetic predisposition to cleft lip and palate. Am J Hum Genet. 1974;26:702-714.
79. Laatikainen T, Ranta R. Hypodontia in twins discordant or concordant for cleft lip and/or palate. Scand J Dent Res. 1994;102:88-91.
80. Le Douarin NM, Kalcheim C. The Neural Crest. Cambridge: Cambridge University Press; 1999.
81. Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB. Predictive value of minor anomalies. I. Association with major malformations. J Pediatr. 1987;110:531-537.
82. Lidral AC, Reising BC. The role of MSX1 in human tooth agenesis. J Dent Res. 2002;81:274-278.
83. Livshits G, Davidi L, Kobyliansky E, Ben-Amitai D, Levi Y, Merlob P. Decreased developmental stability as assessed by fluctuating asymmetry of morphometric traits in preterm infants. Am J Med Genet. 1988;29:793-805.
84. Livshits G, Kobyliansky E. Fluctuating asymmetry as a possible measure of developmental homeostasis in humans: a review. Hum Biol. 1991;63:441-466.
85. Lucas R. On the congenital absence of an upper lateral incisor tooth as a forerunner of harelip and cleft palate. Trans Med Soc Lond. 1882;21:64-66.
86. Malanczuk T, Opitz C, Retzlaff R. Structural changes of dental enamel in both dentitions of cleft lip and palate patients. J Orofac Orthop. 1999;60:259-268.
87. Malina RM, Buschang PH. Anthropometric asymmetry in normal and mentally retarded males. Ann Hum Biol. 1984;11:515-531.
88. Manning JT, Pickup LJ. Symmetry and performance in middle distance runners. Int J Sports Med. 1998;19:205-209.
89. Marazita ML. Genetic etiologies of facial clefting. In: Mooney MP, Siegel MI, eds. Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. New York: Wiley-Liss; 2002a:147-161.
90. Marazita ML. Segregation analysis. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002b:222-239.
91. Marazita ML, Mooney MP. Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg. 2004;31:125-140.
92. Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tuncbilek G, Edwards M, Harkin L, Scott R, Roddick LG. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet. 2004;75:161-173.
93. Marazita ML, Spence MA, Melnick M. Genetic analysis of cleft lip with or without cleft palate in Danish kindreds. Am J Med Genet. 1984;19:9-18.
94. Marden PM, Smith DW, McDonald JJ. Congenital anomalies in the newborn infant, including minor variations. J Pediatr. 1964;64:357.
95. Mars M, Houston WJB. A preliminary study of facial growth and morphology in unoperated male unilateral cleft lip and palate subjects over 13 years of age. Cleft Palate J. 1990;27:7-10.
96. Martin RA, Hunter V, Neufeld-Kaiser W, Hodman P, Spence MA, Furnas D, Martin KA. Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients. Am J Med Genet. 2000;90:155-161.
97. Martin RA, Jones KL, Benirschke K. Extension of the cleft lip phenotype: the subepithelial cleft. Am J Med Genet. 1993;47:744-747.
98. Martin RA, Martin KA. Ultrasound imaging as a tool for possible detection of subepithelial clefts in 1st degree relatives of isolated cleft lip patients [abstract]. J Investig Med. 1995;43(suppl):136A.
99. Mather K. Genetical control of stability in development. Heredity. 1953;7:297-336.
100. McIntyre GT, Mossey PA. Asymmetry of the parental craniofacial skeleton in orofacial clefting. J Orthod. 2002a;29:299-305.
101. McIntyre GT, Mossey PA. The craniofacial morphology of the parents of children with orofacial clefting: a systematic review of cephalometric studies. J Orthod. 2002b;29:23-29.
102. McIntyre GT, Mossey PA. Posteroanterior cephalometric analysis of the parental craniofacial morphology in orofacial clefting. Cleft Palate Craniofac J. 2003;40:416-425.
103. McWilliams BJ, Morris HL, Shelton RL. Cleft Palate Speech. Philadelphia: BC Decker; 1984.
104. Méhes K. Minor Malformations in the Neonate. Budapest; Akadémiai Kiado; 1983.
105. Mellor CS. Dermatoglyphic evidence of fluctuating asymmetry in schizophrenia. Br J Psychiatry. 1992;160:467-472.
106. Melnick M. Cleft lip and palate etiology and its meaning in early 20th century England: Galton/Pearson vs. Bateson; polygenically poor protoplasm vs. Mendelism. J Craniofac Genet Dev Biol. 1997;17:65-79.
107. Merks JHM, van Karnebeek CDM, Caron HN, Hennekam RCM. Phenotypic abnormalities: terminology and classification. Am J Med Genet. 2003;123A:211-230.
108. Mills LF, Niswander JD, Mazaheri M, Brunelle JA. Minor oral and facial defects in relatives of oral cleft patients. Angle Orthodont. 1968;38:199-204.
109. Mitchell LE. Twin studies in oral cleft research. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002:214-221.
110. Mitchell LE, Risch N. Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet. 1992;51:323-332.
111. Møller AP, Manning J. Growth and developmental instability. Vet J. 2003;166:19-27.
112. Møller AP, Thornhill R. A meta-analysis of the heritability of developmental stability. J Evol Biol. 1997;10:1-16.
113. Mooney MP, Siegel MI. Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. New York: Wiley-Liss; 2002.
114. Mooney MP, Siegel MI, Kimes KR, Todhunter J. Development of the orbicularis oris muscle in normal and cleft lip and palate human fetuses using three-dimensional computer reconstruction. Plast Reconstr Surg. 1988;81:336-345.
115. Moss ML, Young RW. A functional approach to craniology. Am J Phys Anthropol. 1960;18:281-292.
116. Mossey PA, Arngrimsson R, McColl J, Vintiner GM, Connor JM. Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. J Med Genet. 1998a;35:371-378.
117. Mossey PA, McColl J, O'Hara M. Cephalometric features in the parents of children with orofacial clefting. Br J Oral Maxillofac Surg. 1998b;36:202-212.
118. Murray JC. Face facts: genes, environment, and clefts. Am J Hum Genet. 1995;57:227-232.
119. Murray JC. Gene/environment causes of cleft lip and/or palate. Clin Genet. 2002;61:248-256.
120. Nagai I, Fujiki Y, Fuchihata H, Yohimoto T. Supernumerary tooth associated with cleft lip and palate. J Am Dent Assoc. 1965;70:642-647.
121. Nakasima A, Ichinose M. Characteristics of craniofacial structures of parents of children with cleft lip and/or palate. Am J Orthod. 1983;84:140-146.
122. Nakasima A, Ichinose M. Size of the cranium in parents and their children with cleft lip. Cleft Palate J. 1984;21:193-203.
123. Naugler CT, Ludman MD. Fluctuating asymmetry and disorders of developmental origin. Am J Med Genet. 1996;66:15-20.
124. Neiswanger K, Cooper ME, Holmes WS, Liu Y, Hu D, Melnick M, Weinberg SM, Marazita ML. Assessment of bilateral symmetry in Chinese families with cleft lip with or without cleft palate. Cleft Palate Craniofac J. 2005;42:192-196.
125. Neiswanger K, Cooper ME, Weinberg SM, Flodman P, Keglovitz AB, Liu Y, Hu DN, Melnick M, Spence MA, Marazita ML. Cleft Hp with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population. Orthod Craniofacial Res. 2002;5:140-146.
126. Neiswanger K, Petiprin SS, Bardi KM, Ford MD, Sauder AS, Giles RF, Weinberg SM, Carter ES, Cooper ME, Marazita ML. Phenotypic variation in individuals with cleft lip with or without cleft palate and their unaffected family members [abstract]. Am J Hum Genet. 2001;69(suppl):305.
127. Niswander JD, Laminographic x-ray studies in families with cleft lip and cleft palate. Arch Oral Biol. 1968;13:1019-1022.
128. Niswander JD, Adams MS. Major malformations in relatives of oral cleft patients. Acta Genet. 1968;18:229-240.
129. Nopoulos P, Berg S, Canady J, Richman L, Van Demark D, Andreasen NC. Abnormal brain morphology in patients with isolated cleft lip, cleft palate, or both: a preliminary analysis. Cleft Palate Craniofac J. 2000;37:441-446.
130. Nopoulos P, Berg S, Canady J, Richman L, Van Demark D, Andreasen NC. Structural brain abnormalities in adult males with clefts of the lip and/or palate. Genet Med. 2002;4:1-9.
131. Nopoulos P, Berg S, VanDemark D, Richman L, Canady J, Andreasen NC. Increased incidence of a midline brain anomaly in patients with nonsyndromic clefts of the lip and/or palate. J Neuroimaging. 2001;11:418-424.
132. Nystrom M, Ranta R. Dental age and asymmetry in the formations of mandibular teeth in twins concordant or discordant for oral clefts. Scand J Dent Res. 1988;96:393-398.
133. O'Callaghan E, Buckley P, Madigan C, Redmond O, Stack JP, Kinsella A, Larkin C, Ennis JT, Waddington JL. The relationship of minor physical anomalies and other putative indices of developmental disturbance in schizophrenia to abnormalities of cerebral structure on magnetic resonance imaging. Biol Psychiatry. 1995;38:516-524.
134. Opitz JM, Utkus A. Comments on biological asymmetry. Am J Med Genet. 2001;101:359-369.
135. Ortiz-Monasterio F, Rebeil AS, Valderrama M, Cruz R. Cephalometric measurements on adult patients with nonoperated cleft palates. Plast Reconstr Surg. 1959;24:53-61.
136. Osborne GS, Pruzansky S, Koepp-Baker H. Upper cervical spine anomalies and osseous nasopharyngeal depth. J Speech Hear Res. 1971;14:14-22.
137. Palmer AR. Fluctuating asymmetry analyses: a primer. In: Markow TA, ed. Developmental Instability: Its Origins and Evolutionary Implications. Dordrecht: Kluwer Academic Publishers; 1994:335-364.
138. Pashayan H, Fraser FC. Nostril asymmetry not a microform of cleft lip. Cleft Palate J. 1971;8:185-188.
139. Pelz L, Amling A. Informative morphologic and phenogenetic variants in children with cleft lip/cleft palate. Am J Med Genet. 1996;63:305-309.
140. Peretz B, Ever-Hadani P, Casamassimo P, Eidelman E, Shellhart C, Hagerman R. Crown size asymmetry in males with fra (X) or Martin-Bell syndrome. Am J Med Genet. 1988;30:185-190.
141. Perkiomaki MR, Yoon KJ, Tallents RH, Barillas I, Herrera-Guido R, Moss ME, Fong CT, Kyrkanides S. Association of distinct craniofacial features in non-syndromic cleft lip and palate family members. Cleft Palate Craniofac J. 2003;40:397-402.
142. Peters H, Neubuser A, Kratochwil K, Balling R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 1998;12:2735-2747.
143. Peterson-Falzone SJ. Velopharyngeal inadequacy in the absence of overt cleft palate. J Craniofac Genet Dev Biol Suppl. 1985;1:97-124.
144. Polak M. Developmental Instability: Causes and Consequences. Oxford: Oxford University Press; 2003.
145. Procházková J, Tolarová M. Craniofacial morphological features in parents of children with isolated cleft palate. Acta Chir Plast. 1986;28:194-204.
146. Procházková J, Vinšová J. Craniofacial morphology as a marker of predisposition to isolated cleft palate. J Craniofac Genet Dev Biol. 1995;15:162-168.
147. Raghavan R, Sidhu SS, Kharbanda OP. Craniofacial pattern of parents of children having cleft lip and/or palate anomaly. Angle Orthodont. 1994;64:137-144.
148. Ranta R. Comparison of tooth formation in noncleft and cleft-affected children with and without hypodontia. ASDC J Dent Child. 1982;49:197-199.
149. Ranta R. Hypodontia and delayed development of the second premolars in cleft palate children. Eur J Orthod. 1983;5:145-148.
150. Ranta R. A review of tooth formation in children with cleft lip/palate. Am J Orthod Dentofacial Orthop. 1986;90:11-18.
151. Ras F, Habets LLMH, van Ginkel FC, Prahl-Andersen B. Three-dimensional evaluation of facial asymmetry in cleft lip and palate. Cleft Palate Craniofac J. 1994;31:116-121.
152. Reed T. Review: dermatoglyphics in medicine-problems and use in suspected chromosome abnormalities. Am J Med Genet. 1981;8:411-429.
153. Reilly JL, Murphy PT, Byrne M, Larkin C, Gill M, O'Callaghan E, Lane A. Dermatoglyphic fluctuating asymmetry and atypical handedness in schizophrenia. Schizophr Res. 2001;50;159-168.
154. Rice JP, Saccone NL, Rasmussen E. Definition of the Phenotype. In: Rao DC, Province MA, eds. Genetic Dissection of Complex Traits. San Diego: Academic Press; 2001:69-76.
155. Rintala AE. Relationship between side of the cleft and handedness of the patient. Cleft Palate J. 1985;22:34-37.
156. Rischbieth H. Harelip and cleft palate. In: Pearson K, ed. Treasury of Human Inheritance: Part IV. London: Dulau; 1910:79-123.
157. Riski JE. Evaluation and management of speech, language, and articulation disorders. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002:354-370.
158. Ross RB, Lindsay WK. The cervical vertebrae as a factor in the etiology of cleft palate. Cleft Palate J. 1965;2:273-281.
159. Sandham A. Cervical vertebral anomalies in cleft lip and palate. Cleft Palate J. 1986;23:206-214.
160. Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994;6:348-356.
161. Schaumann B, Alter M. Dermatoglyphics in Medical Disorders. New York: Springer-Verlag; 1976.
162. Schliekelman P, Slatkin M. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet. 2002;71:1369-1385.
163. Schroeder DC, Green LJ. Frequency of dental trait anomalies in cleft, sibling, and noncleft groups. J Dent Res. 1975;54:802-807.
164. Scott NM, Weinberg SM, Daack-Hirsch S, Neiswanger K, O'Brien S, Nepomunceno B, Murray JC, Marazita ML. Dermatoglyphics in Filipinos with nonsyndromic cleft lip with or without cleft palate (NS CL/P) and their relatives [abstract]. Am J Hum Genet. 2003;73(suppl):286.
165. Scott NM, Weinberg SM, Neiswanger K, Marazita ML. Hair whorls and handedness: informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives. Am J Hum Genet. 2004;75(suppl):164.
166. Scutt D, Manning JT. Symmetry and ovulation in women. Hum Reprod. 1996;11:2477-2480.
167. Shapira Y, Lubit E, Kuftinec MM. Congenitally missing second premolars in cleft lip and cleft palate children. Am J Orthod Dentofacial Orthop. 1999;115:396-400.
168. Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet. 1985;20:585-595.
169. Siegel MI, Doyle WJ. The effects of cold stress on fluctuating asymmetry in the dentition of the mouse. J Exp Zool. 1975;193:385-389.
170. Siegel MI, Mooney MP. Palatal width growth rates as the genetic determinant of cleft palate induced by vitamin A. J Craniofac Genet Dev Biol Suppl. 1986;2:187-191.
171. Siegel MI, Mooney MR Perinatal stress and increased fluctuating asymmetry of dental calcium in the laboratory rat. Am J Phys Anthropol. 1987;73:267-270.
172. Siegel MI, Mooney MP, Kimes KR, Todhunter J. Analysis of the size variability of the human normal and cleft palate fetal nasal capsule by means of three-dimensional computer reconstruction of histologic preparations. Cleft Palate J. 1987;24:190-199.
173. Siegel MI, Mooney MP, Kimes KR, Todhunter J. Developmental correlates of midfacial components in a normal and cleft lip and palate human fetal sample. Cleft Palate Craniofac J. 1991;28:408-412.
174. Siegel MI, Mooney MP, Taylor AB. Skeletal and dental size reduction as a consequence of environmental stress. Acta Zool Fennica. 1992;191:143-147.
175. Siegel MI, Smookler HH. 1973. Fluctuating dental asymmetry and audiogenic stress. Growth. 1973;37:35-39.
176. Sigler A, Ontiveros DS. Nasal deformity and microform cleft lip in parents of patients with cleft lip. Cleft Palate Craniofac J. 1999;36:139-143.
177. Silva Filho OG, Carvalho Lauris RCM, Capelozza Filho L, Semb G. Craniofacial morphology in adult patients with unoperated complete bilateral cleft lip and palate. Cleft Palate Craniofac J. 1998;35:111-119.
178. Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate Craniofac J. 2003;40:274-279.
179. Šmahel Z, Pobisoa Z, Figalova P. Basic cephalometric facial characteristics in cleft lip and/or cleft palate prior to the first surgical repair. Acta Chir Plast. 1985;27:131-144.
180. Šmahel Z, Škvařilová B. Length of the cervical spine as a factor in the etiology of cleft palate. Cleft Palate Craniofac J. 1993;30:274-278.
181. Sofaer JA. Human tooth-size asymmetry in cleft lip with or without cleft palate. Arch Oral Biol. 1979;24:141-146.
182. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000;24:18-19.
183. Suzuki A, Takenoshita Y, Honda Y, Matsuura C. Dentocraniofacial morphology in parents of children with cleft lip and/or palate. Cleft Palate Craniofac J. 1999;36:131-138.
184. Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper M, Viet LT, Nguyen TDT, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC. In a Vietnamese population MSX1 variants contribute to cleft lip and palate. Genet Med. 2004;6:117-125.
185. Thoma RJ, Yeo RA, Gangestad SW, Lewine JD, Davis JT. Fluctuating asymmetry and the human brain. Laterality. 2002;7:45-58.
186. Thornhill R, Møller AP. Developmental stability, disease and medicine. Biol Rev Camb Philos Soc. 1997;72:497-548.
187. Tisserand M. Dominance laterale et bec-de-lievre. Arch Fr Pediatr. 1944;2:166-167.
188. Tolarová MM, Cervenka J. Classification and birth prevalence of orofacial clefts. Am J Med Genet. 1998;75:126-137.
189. Townsend GC. Fluctuating dental asymmetry in Down's syndrome. Aust Dent J. 1983;28:39-44.
190. Trasler DG. Pathogenesis of cleft lip and its relation to embryonic face shape in A/J and C57BL. Teratology. 1968;1:33-50.
191. Trew CJ. Sistens plura exempla palati deficientis. Nova Acta Physico-Medica Academiae Caesareae Leopoldino-Carolinae Naturae Curiosoru. 1757;1:445-447.
192. Uǧar DA, Semb G. The prevalence of anomalies of the upper cervical vertebrae in subjects with cleft lip, cleft palate, or both. Cleft Palate Craniofac J. 2001;38:498-503.
193. van den Boogaard MJH, Dorland M, Beemer FA, van Amstel HKP. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet. 2000;24:342-343.
194. Van Valen L. A study of fluctuating asymmetry. Evolution. 1962;16:125-142.
195. Vanderas AR Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate J. 1987;24:216-225.
196. Vantrappen G, Rommel N, Wellens W, Cremers CW, Fryns JP, Devriendt K. Autosomal dominant isolated velopharyngeal insufficiency. Clin Genet. 2002;61:74-76.
197. Vergato LA, Doerfler RJ, Mooney MP, Siegel MI. Mouse palatal width growth rates as an "at risk" factor in the development of cleft palate induced by hypervitaminosis A. J Craniofac Genet Dev Biol. 1997;17:204-210.
198. Vichi M, Franchi L. Abnormalities of the maxillary incisors in children with cleft lip and palate. ASDC J Dent Child. 1995;62:412-417.
199. Vormittag W, Weninger M, Hollmann K, Hoffmann D. Heterogeneity of cleft lip and/or palate and dermatoglyphics. In: Wertelecki W, Plato CC, eds. Dermatoglyphics-Fifty Years Later. New York: Alan R. Liss; 1979:649-659.
200. Wada T, Satoh K, Tachimura T, Tatsuta U. Comparison of nasopharyngeal growth between patients with clefts and noncleft controls. Cleft Palate Craniofac J. 1997;34:405-409.
201. Waddington CH. Canalisation of development and the inheritance of acquired characters. Nature. 1942;150:563-565.
202. Waddington CH. The Strategy of the Genes. London: Allen & Unwin; 1957.
203. Waddington JL, Lane A, Larkin C, O'Callaghan E. The neurodevelopmental basis of schizophrenia: clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease. Biol Psychiatry. 1999;46:31-39.
204. Ward RE, Bixler D, Jamison PL. Cephalometric evidence for a dominantly inherited predisposition to cleft lip-cleft palate in a single large kindred. Am J Med Genet. 1994;50:57-63.
205. Ward RE, Bixler D, Raywood ER. A study of cephalometric features in cleft lip-cleft palate families I: phenotypic heterogeneity and genetic predisposition in parents of sporadic cases. Cleft Palate J. 1989;26:318-325.
206. Ward RE, Moore ES, Hartsfield JK. Morphometric characteristics of subjects with oral facial clefts and their relatives. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002:66-86.
207. Warrington EK, Pratt RTC. Language laterality in left-handers assessed by unilateral E.C.T. Neuropsychologia. 1973;11:423-428.
208. Waynforth D. Fluctuating asymmetry and human male life-history traits in rural Belize. Proc R Soc Lond B Biol Sci. 1998;265:1497-1501.
209. Weinberg SM, Neiswanger K, Mooney MP, Cooper ME, Goldstein TH, Bowen A, Martin RA, Marazita ML. Genome scan of cleft lip with or without cleft palate (CL/P): Part I. broadening the phenotype to include lip muscle defects [abstract]. Am J Hum Genet. 2003;73(suppl):291.
210. Weinberg SM, Neiswanger K, Mooney MP, Faix RS, Richardson DA, Petiprin SS, Bardi KM, Giles RF, Carter ES, Bowen A and others. Ultrasound analysis of orbicularis oris muscle defects in individuals with cleft lip with or without cleft palate and their relatives [abstract]. Am J Hum Genet. 2001;69(suppl):308.
211. Wentzlaff KA, Cooper ME, Yang P, Aston CP, Liu YE, Melnick M, Marazita ML. Association between non-right-handedness and cleft lip with or without cleft palate in a Chinese population. J Craniofac Genet Dev Biol. 1997;17:141-147.
212. Werner SP, Harris EF. Odontometrics of the permanent teeth in cleft lip and palate: systemic size reduction and amplified asymmetry. Cleft Palate J. 1989;26:36-41.
213. Wilber E, Newell-Morris L, Streissguth AP. Dermatoglyphic asymmetry in fetal alcohol syndrome. Biol Neonate. 1993;64:1-6.
214. Woolf CM, Gianas AD. Congenital cleft lip and fluctuating dermatoglyphic asymmetry. Am J Hum Genet. 1976;28:400-403.
215. Woolf CM, Gianas AD. A study of fluctuating asymmetry in the sibs and parents of cleft lip propositi. Am J Hum Genet. 1977;29:503-507.
216. Woolf CM, Woolf RM, Broadbent TR. Lateral incisor anomalies: microforms of cleft lip and palate? Plast Reconstr Surg. 1965;35:543-547.
217. Wunderlick RC, Heerema NA. Hair crown patterns of human newborns. Clin Pediatr (Bologna). 1975;14:1045-1049.
218. Wyszynski DF. Cleft Lip and Palate: From Origin to Treatment. Oxford: Oxford University Press; 2002.
219. Wyszynski DF, Beaty TH, Maestri NE. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J. 1996;33:406-417.
220. Wyszynski DF, Sarkozi A, Vargha P, Czeizel AE. Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate. J Clin Pediatr Dent. 2003;27:185-190.
221. Wyszynski DF, Wu T. Prenatal and perinatal factors associated with isolated oral clefting. Cleft Palate Craniofac J. 2002;39:370-375.
222. Yaraagata Y. Dermatoglyphic study of harelip and cleft palate [in Japanese]. Shikoku Acta Medica. 1973;29:143-148.
223. Yeo RA, Gangestad SW, Daniels WF. Hand preference and developmental instability. Psychobiology. 1993;21:161-168.
224. Yoon YJ, Perkiomaki MR, Tallents RH, Barillas I, Herrera-Guido R, Fong CT, Kyrkanides S. Associations of nasomaxillary asymmetry in children with unilateral cleft lip and palate and their parents. Cleft Palate Craniofac J. 2003;40:493-497.
225. Yorita GJ, Melnick M. Cleft lip and handedness: a study of laterality. Am J Med Genet. 1988;31:273-280.
226. Yoshida H, Nakamura A, Michi K, Go-Ming W, Kan L, Wei-Liu Q. Cephalometric analysis of maxillofacial morphology in unoperated cleft palate patients. Cleft Palate Craniofac J. 1992;29:419-424.
227. Zemenn W, Santler G, Karcher H. Analysis of midface asymmetry in patients with cleft lip, alveolus and palate at the age of 3 months using 3D-COSMOS measuring system. J Craniomaxillofac Surg.; 2002;30:148-152.
228. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomucena B, Ribeiro LL, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Goldstein TH, Schultz RE, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. Interferon regulatory factor 6 (IRF6) is a modifier for isolated cleft lip and palate. N Engl J Med. 2004;351:769-780.