The nature and severity of congenital heart disease in 78 patients who presented with clefts of the lip and/or palate is reported. The prevalence of bilateral cleft lip and palate in patients with heart lesions was much higher than in cleft patients with normal hearts. Cardiac defects were predominantly conotruncal. Tetralogy of Fallot was present in 24 percent of patients; the prevalence of transposition, atrioventricular septal defect, and truncus arteriosus was also disproportionately high. Patients with conotruncal defects had a greater prevalence of either unilateral or bilateral cleft lip and palate. Most patients with congenital heart disease and clefting had additional abnormalities. Anomalies of other systems were found to be present in 87 percent of patients.
BixlerD. (1981). Genetics and ciefting.Cleft Palate J18: 10–18.
2.
BoesenI., MelchiorJ.C., TerslevE., VendelS. (1963). Extracardiac congenital malformations in children with congenital heart diseases, Acta Paediatr Scand (Suppl)146: 28–33.
3.
BrownJ.W., PodosinR. (1966). A syndrome of the neural crest.Arch Neurol15: 294–301.
4.
CaramelliZ., ReginatoL.E. (1959). The role of the association between congenital heart disease and cleft lip and palate in surgical mortality, Br J Plast Surg12: 76–77.
5.
Center For Disease Control,. (1978). Congenital malformation survey report. Oct. 1976-Sept. 1977.
6.
CohenM.M. (1978). Syndromes with cleft lip and cleft palate.Cleft Palate J15: 306–328.
7.
EmanuelR., SomervilleJ., InnsA., WithersR. (1983). Evidence of congenital heart disease in the offspring of parents with atrioventricular septal defects.Br Heart J49: 144–147.
FraserF.C. (1970). The genetics of cleft lip and palate.Am J Hum Genet22: 336–352.
10.
GeisN., SetoB., BartosheskyL., LewisM.B., PashayanH.M. (1981). The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic.Cleft Palate J18: 12–23.
11.
GreeneJ.C., VermillionJ.R., HayS., GibbensS.F., KerschbaumS. (1964). Epidemiologic study of cleft lip and palate in four states.J Am Dent Assoc68: 387–404.
12.
GreenwoodR.D., RosenthalA., ParisilL., FlyerD.C., NadasA.S. (1975). Extracardiac anomalies in infants with congenital heart disease.Pediatrics55: 485–492.
13.
HelmiC., PruzanskyS. (1980). Craniofacial and extracranial malformations in the Klippel-Feil syndrome.Cleft Palate J17: 65–88.
JensenB.L., KreiborgS., DahlE., Fogh-AndersenP. (1988). Cleft lip and palate in Denmark, 1976-1981: epidemiology, variability, and early somatic development.Cleft Palate J25: 258–269.
17.
KirbyM.L., GaleT.F., StewartD.E. (1983). Neural crest cells contribute to normal aorticopulmonary septation.Science220: 1059–1061.
18.
KirbyM.L. (1987). Cardiac morphogenesis - recent research advances.Pediatr Res21: 219–224.
19.
KitamuraM., KrausB.S. (1964). Visceral variations and defects associated with cleft lip and palate in human fetuses: a macroscopic description.Cleft Palate J1: 99–114.
20.
KnoxG., BraithwaitheF.I. (1963). Cleft lips and palates in Northumberland and Durham.Arch Dis Child38: 66–70.
21.
KrausB.S., KitamuraH., OaeT. (1963). Malformations associated with cleft lip and palate in human embryos and fetuses.Am J Obstet Gynecol85: 321–328.
LyonM.F. (1958). Twirler: a mutant affecting the inner ear of the house mouse.J Embryol Exp Morph6: 105–116.
24.
MackeprangM., HayS. (1971). Observations on congenital heart disease in a mortality study of children with cleft lip and palate.J Chronic Dis24: 34–43.
25.
McKeownT., RecordR.G. (1960). Malformations in a population observed for five years after birth. In: Ciba Foundation symposium on congenital malformations.Boston: Little, Brown & Co,2–21.
26.
MooreG.E., IvensA., ChambersJ., FarrallM., WilliamsonR., PageD.C., BjörnssonÅ, ÅrnasonA., JenssonO. (1987). Linkage of an X-chromosome cleft palate gene.Nature326: 91–92.
27.
NoonanJ.A. (1978). Association of congenital heart disease with syndromes or other defects.Pediatr Clin North Am24: 797–815.
PashayanH.M. (1983). What else to look for in a child bom with a cleft of the lip and/or palate.Cleft Palate J20: 54–82.
30.
PashayanH.M., LewisM.B. (1984). Clinical experience with the Robin sequence.Cleft Palate J21: 270–276.
31.
RadfordD.J. (1985). Truncus arteriosus and facial dysmorphism.Aust Paediatr J21: 131–133.
32.
RadfordD.J., ThongY.H. (1989). Facial and immunological anomalies associated with tetralogy of Fallot.Int J Cardiol22: 229–236.
33.
RollnickB.R., PruzanskyS. (1981). Genetic services at a center for craniofacial anomalies.Cleft Palate J18: 304–313.
34.
RossR.B., JohnstonM.C. (1978). In: Cleft lip and palate.Huntington, NY: Robert Kreiger Publishing Company.
35.
SaitoK. (1982). Cleft lip with asplenia syndrome.Cleft Palate J19: 231.
36.
SandhamA. (1986). Cervical vertebral anomalies in cleft lip and palate.Cleft Palate J23: 206–214.
37.
ShahE.V., PruzanskyS., HarrisW.S. (1970). Cardiac mal formations with facial clefts.Am J Dis Child119: 238–244.
38.
ShprintzenR.J., GoldbergR.B., LewinM.L., SidotiE.J., BerkmanM.D., ArgamasoR.V., YoungD. (1978). A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.Cleft Palate J15: 56–62.
39.
ShprintzenR.J., GoldbergR.B., YoungD., WolfordL. (1981). The velo-cardio-facial syndrome: a clinical and genetic analysis.Pediatrics67: 167–172.
40.
ShprintzenR.J., Siegel-SadewitzV.L., AmatoJ., GoldbergR.B. (1985a). Anomalies associated with cleft lip, cleft palate, or both.Am J Med Genet220: 585–595.
41.
ShprintzenR.J., Siegel-SadewitzV.L., AmatoJ., GoldbergR.B. (1985b). Retrospective diagnoses of previously missed syndromic disorders among 1000 patients with cleft lip, cleft palate, or both.Birth Defects21: 85–92.
42.
SiebertJ.R. (1981). The ethmoid bone: implications for normal and abnormal facial development.J Craniofac Genet Dev Biol1: 381–389.
43.
SiebertJ.R., GrahamJ.M., MacDonaldC. (1985). Pathologic features of the CHARGE association: support for involvement of the neural crest.Teratology31: 331–336.
44.
SiegelB. (1979). A racial comparison of cleft patients in a clinic population: associated anomalies and recurrence rates.Cleft Palate J16: 193–197.
45.
TempleK., CalvertM., PlintD., ThompsonE., PembreyM. (1989). Dominantly inherited cleft lip and palate in two families.J Med Genet26: 286–289.
46.
TobiasenJ.M., LevyJ., CarpenterM.A., HiebertJ.M.(1987). Type of facial cleft, associated congenital malformations, and parents of school and conduct problems.Cleft Palate J24: 209–215.
47.
VanderasA.P. (1987). Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review.Cleft Palate J24: 216–225.
48.
Van LimborghJ., Lieuw Kie SongS.H., BeenW. (1983). Cleft lip and palate due to deficiency of mesencephalic neural crest cells.Cleft Palate J20: 251–259.
49.
WaardcnburgP.J. (1951). A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root, with pigmentary defects of the iris and head hair and with congenital deafness.Am J Hum Genet3: 195–253.
50.
WilliamsM.A., ShprintzenR.J., GoldbergR.B.(1985). Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.J Craniofac Genet Dev Biol5: 175–180.
51.
YoungD., ShprintzenR.J., GoldbergR.B. (1980). Cardiac malformations in the velo-cardio-facial syndrome.Am J Cardiol46: 643–64R.
52.
CareyJ.C., FinemanR.M., ZiterF.A. (1982). The Robin sequence as a consequence of malformation, dysplasia and neuromuscular syndromes.J Pediatr101: 858–864.
53.
ClarkE.B. (1987). Mechanisms in pathogenesis of congenital cardiac malformations. In: PierpontM.E., MollerJ.H., eds. Genetics of cardiovascular disease.Boston: Martinus, Nijhoff Publishing, 3–11.
54.
FerenczC., RubinJ.D., McCarterR.J., BoughmanJ.A., WilsonP.D., BrennerJl, NeillC.A., PerryL.W., HepnerS.I., DowningJ.W. (1987). Cardiac and non-cardiac malformations: observations in a population base study.Teratology35: 367–378.
55.
FerenczC., RubinJ.D., McCarterR.J., ClarkE.B. (1990). Maternal diabetes and cardiovascular malformations: predominance of double outlet right ventricle and truncus arteriosus.Teratology41: 319–326.
