Differentiation between Cleft Lip with or without Cleft Palate and Isolated Cleft Palate Using Parental Cephalometric Parameters

Abstract

Objective

The purpose of this study was to identify and compare lateral cephalometric measurements in noncleft parents of children with cleft palate (CP) and cleft lip (CL), and cleft lip and palate (CLP). The hypothesis was that discriminant analysis would enable identification of morphometric features that predispose to orofacial clefting and that differ for CP, CL, and CLP and are unevenly distributed within parental pairs.

Design

This was a prospective, parametric analysis.

Setting

The study was conducted by the Department of Dental Health, University of Dundee, and the Department of Statistics, University of Glasgow, Scotland.

Subjects

From a completely ascertained sample of 286 children with cleft lip and/or palate born in the West of Scotland between January 1, 1980, and December 31, 1984, a sample of 83 parents of children with nonsyndromic clefts volunteered for lateral cephalometric examination.

Methods

Thirty-seven cranial and 99 facial landmarks were identified and 37 linear, angular, and area parameters were used to describe the craniofacial skeleton. Analysis of variance was used for a three-way comparison of CL/CLP/CP, and stepwise discriminant analysis was used to determine which variables discriminate best between cleft lip with or without cleft palate [CL(P)] and isolated cleft palate (CP) parents.

Results

There were no significant differences whatsoever in the craniofacial morphology between the parents of children with CL and CLP, but differences were found between the CL(P) and CP groups. The most significant of these were in mandibular length, ramus length, mandibular area, and cranial area. Mandibular ramus length alone discriminated between the two groups in 71.4% of CP and in 62.5% of CL(P) cases, while separate analysis of fathers and mothers showed that ramus length and cranial height together reliably distinguish between mothers in 75% of CP and 80% of CL(P) cases.

Conclusions

Previous studies suggests that unaffected parents with nonsyndromic children with cleft lip and/or palate have differences in their craniofacial morphology when compared to the general population. This study indicates that these morphologic features differ for CP and CL(P).

Keywords

cleft lip cleft lip and palate discriminant analysis isolated cleft palate parental craniofacial shape

Get full access to this article

View all access options for this article.

References

Ardinger

H.H.

, Buetow

K.H.

, Bell

G.I.

. Association of genetic variation of the transforming growth factor alpha gene with cleft lip and palate. Am J Hum Genet 1989; 43: 348–353.

Bixler

, Fogh-Anderson

, Conneally

P.M.

Incidence of cleft lip and palate in the off-spring of cleft lip parents.

Clin Genet 1971; 2: 155–159.

Blanco

, Cifuentes

, Maldonado

M.J.

. Cleft lip and cleft palate, cephalometric features of affected individuals, their relatives and a control population, Rev Med Chile 1992; 120: 13–19.

BMDP Statistical software. Berkeley, CA: University of California Press, 1983.

Carter

C.O.

, Evans

, Coffey

. A family study of isolated cleft palate. J Med Genet 1982; 19: 329–331.

Chenevix-Trench

, Jones

, Green

et al. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate.

Am J Hum Genet 1991; 48: 1012–1013.

Chenevix-Trench

, Jones

, Green

. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet 1992; 51: 1377–1385.

Chung

C.S.

, Bixler

, Watanabe

et al. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data.

Am J Hum Genet 1986; 39: 603–611.

Chung

C.S.

, Mi

M.P.

, Beechert

A.M.

Genetic epidemiology of cleft lip with or without cleft palate in the population of Hawaii, Genet Epidemiol 1987; 4: 415–423.

10.

Coccaro

P.J.

, D'Amico

, Chavoor

Craniofacial morphology of parents with and without cleft lip and palate children.

Cleft Palate J 1972; 9: 28–42.

11.

Curtis

E.J.

, Fraser

F.C.

, Warburton

Congenital cleft lip and palate.

Am J Dis Child 1961; 102: 853–857.

12.

Czeizel

, Tusnady

Isolated common congenital abnormalities in Hungary. Budapest: Akademiai Kiado, 1984.

13.

Diewert

V.M.

Development of human craniofacial morphology during the late embryonic and early fetal periods.

Am J Orthod 1985; 88: 64–76.

14.

Dixon

M.J.

, Garner

, Ferguson

M.W.J.

Immunolocalisation of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFa) during murine palatogenesis in vivo and in vitro. Anat Embryol 1991; 184: 83–91.

15.

Eiberg

, Bixler

, Nielsen

L.S.

. Suggestion of linkage of a major locus for non-syndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet 1987; 32: 129–132.

16.

Figalova

, Hainis

, Šmahel

The interocular distance in children with cleft before the operation.

Acta Chir Plast 1974; 16: 65–77.

17.

Fitzpatrick

D.R.

, Raine

P.A.M.

, Bookman

J.G.

Facial clefts in the west of Scotland in the period 1980–1984: epidemiology and genetic diagnoses.

J Med Gen 1994; 31: 127–129.

18.

Fogh-Anderson

Inheritance of harelip and cleft palate: contribution to the elucidation of the etiology of the congenital clefts of the face. Copenhagen: Busck, 1942.

19.

Fraser

F.C.

The genetics of cleft lip and cleft palate, Am J Hum Genet 1970; 22: 336–352.

20.

Fraser

F.C.

, Pashayan

Relation of face shape to susceptibility to congenital cleft lip (a preliminary report).

J Med Genet 1970; 7: 112–117.

21.

Harris

J.E.

A multivariate analysis of the craniofacial complex. Ph.D. Thesis, School of Dentistry, University of Michigan, Ann Arbor, 1963.

22.

Hecht

J.T.

, Wang

, Blanton

S.H.

. The role of TGF-alpha in cleft lip and palate. Reply to Farrall et al. Am J Hum Genet 1993; 52: 436–437.

23.

Hill

P.A.

The prevalence and severity of malocclusion and the need for orthodontic treatment in 9, 12 and 15 year old Glasgow school children.

Br J Orthod 1992; 19: 87–96.

24.

Holder

S.E.

, Vintiner

G.M.

, Farren

. Confirmation of an association between RFLPs at the transforming growth factor alpha locus and non-syndromic cleft lip and palate. J Med Genet 1992; 29: 390–392.

25.

Horowitz

S.L.

, Osborne

R.H.

, Degeorge

F.V.

A cephalometric study of craniofacial variation in adult twins.

Angle Orthod 1960; 30: 1–5.

26.

Houston

W.J.B.

The analysis of errors in orthodontic measurements.

Am J Orthod 1983; 83: 382–390.

27.

Hughes

B.O.

, Moore

G.R.

Heredity, growth, and the dento-facial complex.

Angle Orthod 1941; 11: 122–127.

28.

Kernahan

D.A.

, Stark

R.B.

A new classification for cleft lip and cleft palate.

Plast Reconstr Surg 1958; 22: 435–441.

29.

Koguct

Recurrence rate in off-spring and siblings of patients with cleft lip and/or cleft palate.

Jpn J Hum Genet 1975; 20: 207–221.

30.

Kraus

B.S.

, Wise

W.J.

, Frei

R.H.

Heredity and the craniofacial complex, Am J Orthod 1959; 45: 172–217.

31.

Kurisu

K.K.

, Niswander

J.D.

, Johnston

M.C.

, Mazaheri

Facial morphology as an indicator of genetic predisposition to cleft lip and palate.

J Hum Genet 1974; 26: 702–714.

32.

Luffingham

J.K.

, Campbell

M.C.

The need for orthodontic treatment. A pilot survey of 14 year old school children in Paisley, Scotland.

Trans Eur Orthod Soc 1974; 344–356.

33.

Marazita

M.L.

, Spence

M.A.

, Melnick

Genetic analysis of cleft lip with or without cleft palate in Danish kindreds.

Am J Med Genet 1984; 19: 9–18.

34.

Melnick

, Bixler

, Fogh-Anderson

, Conneally

P.M.

Cleft lip with or without cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968.

Am J Med Genet 1986; 6: 83–97.

35.

Nakasima

, Ichinose

Characteristics of craniofacial structures in parents of children with cleft lip and/or palate.

Am J Orthod 1983; 84: 140–146.

36.

Nakasima

, Ichinose

Size of the cranium in parents and their children with cleft lip.

Cleft Palate J 1984; 21: 193–203.

37.

Prochazkova

, Tolarova

Craniofacial morphological features in parents of children with isolated cleft palate.

Acta Chir Plast 1986; 28: 194–204.

38.

Prochazkova

, Vinsova

Craniofacial morphology as a marker of predisposition to isolated cleft palate.

J Craniofac Genet Dev Biol 1995; 15: 162–168.

39.

Raghavan

, Sidhu

S.S.

, Kharbanda

O.P.

Craniofacial pattern of parents of children having cleft lip and/or cleft palate anomaly.

Angle Orthod 1994; 64: 137–144.

40.

Rubbrect

O.A.

A study of the heredity of the anomalies of the jaws, Am J Orthod Oral Surg 1939; 25: 751–779.

41.

Sassani

, Barrlett

S.P.

, Feng

. Association between alleles of the transforming growth factor alpha locus and the occurrence of the cleft lip. Am J Med Genet 1989; 50: 565–569.

42.

Sato

Craniofacial morphology of parents with cleft lip and palate children.

Shikwa Gakuho 1989; 89: 1479–1506.

43.

Shiang

, Lidral

A.C.

, Ardinger

H.H.

. Association of transforming growth factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am J Hum Genet 1993; 53: 836–843.

44.

Shibasaki

, Ohtsuka

A cephalometric study on craniofacial morphology of parents of children with cleft lip and palate.

J Stomatol Soc Japan 1978; 3: 31–43.

45.

Shields

E.D.

, Bixler

, Fogh-Anderson

Cleft palate: a genetic and epidemiological investigation.

Clin Genet 1981; 20: 13–24.

46.

Stein

K.F.

, Kelly

T.J.

, Wood

Influence of heredity in the etiology of malocclusion.

Am J Orthod 1956; 42: 125–141.

47.

Ward

, Bixler

, Raywood

E.R.

A study of cephalometric features in cleft lip and cleft palate families.

Phenotypic heterogeneity and genetic predisposition in parents of sporadic cases, Cleft Palate J 1989; 26: 318–325.

48.

Watnick

S.S.

Inheritance of craniofacial morphology.

Angle Orthod 1972; 42: 339–351.