Five cases with vomeroseptal-prolabium agenesis, four with premaxillary agenesis, and one with hemipremaxillary agenesis are presented. All five patients had complete clefts of the secondary palate. No known family history for craniofacial dysmorphia was reported. Height and weight ranged from 2nd to 10th centile. Psychological testing showed intelligent quotients of 121, 93, 72 for three patients; two were microcephalic with undetermined IQ, but severe generalized developmental delay. CT scans for the patient with the IQ of 72 and for one of the two microcephalic subjects showed normal brain structures. The other microcephalic patients had midline prosencephalic dysgenesis. Cephalometric analysis of the cranial base and interorbital dimension using normal standards and self Indexing showed hypotelorism and small anterior cranial bases to be apparently related to reduced size of the sphenoid. An intact ethmoid, nasal bone, and crista galli appear to represent key anatomic differences in these patients as compared to classical holoprosencephaly sequence subjects. It was suggested that this pattern of midline facial agenesis may range from a solitary central incisor to the most severe variant presented. Using the embryologic classification, these subjects fall best under the heading of craniofacial dysplasia rather than cerebral craniofacial dysplasia, as a different type of interophthalmic dysplasia or DeMyer sequence.
ArdingerH.H., BartleyJ.A. (1988). Microcephaly in familial holoprosencephaly.J Craniofac Genet Dev Biol8: 53–61.
2.
BaconW.M., RemyM. (1983). Craniofacial characteristics of cyclopia in man and swine; implications of the role of medial structures in growth and development.Angle Orthol53: 290–310.
3.
BarrM.Jr..HansonJ.W., CurreyK., SharpS., TorielloH., SchmickelR.D., WilsonG.N. (1983). Holoprosencephaly in infants of diabetic mothers.J Pediatr102: 565–568.
4.
Ben HurN., AshurH., MusseriM. (1978). An unusual case of median cleft lip with orbital hypotelorism — a missing link in the classification.Cleft Palate J15: 365–368.
5.
BenkeP.J., CohenM.M.Jr.. (1983). Recurrence of holoprosencephaly in families with a positive history.Clin Genet24: 324–328.
6.
BerryS.A., PierpontM.E., GorlinR.J. (1984). Single central incisor in familial holoprosencephaly.J Pediatr104: 877–880.
7.
BlechschmidtE. (1976). Principles of biodynamic differentiation. In: BosmaJ.F., ed. Development of the basicranium.Bethesda: U.S. Department of Health, Education, and Welfare,54–77.
BurdiA.R. (1976). Early development of the human basicranium: its morphogenic controls, growth patterns and relations. In: BosmaJ.F., ed. Development of the basicranium.Bethesda: U.S. Department of Health, Education, and Welfare,81–91.
CohenM.M.Jr..HohlT.H. (1976). Etiologic heterogeneity in holoprosencephaly and facial dysmorphia with comments on the facial bones and cranial base. In: BosmaJ.F., ed. Development of the basicranium.Bethesda: U.S. Department of Health, Education and Welfare,383–399.
12.
CohenM.M.Jr..JirasekJ.E., GuzmanR.T., GorlinR.J., PetersonM.Q. (1971). Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis.Birth Defects7(7): 125–135.
DeMyerW. (1975). Median facial malformations and their complications for brain malformation.Birth Defects11: 155–181.
15.
DeMyerW., ZemanW., PalmerC.G. (1964). The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly).Pediatrics34: 256–263.
IshiguroK., KrogmanW.M., MazaherM., HardingR.L. (1976). A longitudinal study of morphological craniofacial patterns via P-A x-ray headfilms in cleft patients from birth to six years of age.Cleft Palate J13: 104–126.
24.
JaramilloC., BrandtS.K., JorgensonR.J. (1988). Autosomal dominant inheritance of the DeMyer Sequence.J Craniofac Genet Dev Biol8: 199–204.
25.
KoppW.K. (1967). A hereditary congenitally missing maxillary central incisor.Oral Surg Oral Med Oral Pathol24: 367.
26.
LaronZ., TaubeE., KaplanI. (1969). Pituitary growth hormone insufficiency associated with cleft lip and palate, an embryonal development defect.Helv Pediatr Acta24: 576–581.
27.
LeechR.W., ShumanR.M. (1986). Holoprosencephaly and related midline cerebral anomalies: a review.J Child Neurol1: 3–18.
PashayanH.M., LewisM.B. (1980). Hypotelorism, nasomaxillary hypoplasia and cleft lip and palate in a patient with normocephaly and normal intelligence — a case report.Cleft Palate J17: 62–64.
31.
PatelH., DolmanC.L., ByrneM.A. (1972). Holoprosencephaly with median cleft lip.Am J Dis Child124: 217–221.
32.
PettersonJ.C. (1976). An anatomical study of two cases of cebocephaly. In: BosmaJ.F., ed. Development of the basicranium.Bethesda: U.S. Department of Health, Education and Welfare,240–265.
33.
QuanL., SmithD.W. (1973). The Vater association.Pediatrics82: 104–106.
RappaportE.B., UlstromR.A., GorlinR.J., LuckyA.W., ColleE., MiserJ. (1977). Solitary maxillary central incisor and short stature.J Pediatr91: 924–928.
36.
RoachE., DeMyerW., ConneallyP.M., PalmerC., MerrittA.D. (1975). Holoprosencephaly; birth data, genetic and demographic analyses of 30 families.Birth Defects11(2): 294–313.
37.
RowlattU., PruzanskyS. (1980). Premaxillary agenesis, ocular hypotelorism, holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.Cleft Palate J17: 197–204.
38.
ScottD.C. (1958). Absence of upper central incisor.Br Dent104: 247–248.
39.
van der MeulenJ.C., MazzolaM.D., Vermy-keersC., StrickerM.D., RaphaelB. (1983). A morphogenetic classification of craniofacial malformations.Plast Reconstr Surg71: 560–572.
40.
Vermy-KeersC., MazzolaJ.C., van der MeulenJ.C., StrickerM. (1983). Cerebro-craniofacial and craniofacial malformation: an embryological analysis.Cleft Palate J20: 128–145.
41.
WesleyR.K., HoffmanW.H., PerrinJ., DelaneyJ.R.Jr.. (1978). Solitary maxillary central incisor and normal stature.Oral Surg Oral Med Oral Pathol46: 837–842.
42.
ZuppingerK.A., SutterM., ZurbruggR.P., JossE.E., DetlikerO. (1971). Cleft lip and choriodeal coloboma associated with multiple hypothalmopituitary dysfunctions.Clin Endocrinol Metab33: 934–939.
43.
JaramilloC., BrandtS.K., JorgensonR.J. (1988). Autosomal dominant inheritance of the DeMyer Sequence.J Craniofac Genet Dev Biol8: 199–204.
44.
MotzkinB.A., GoldbergR., WechslerM., MarionR.W. (1990). Brain imaging in variants of the holoprosencephaly malformation sequence: the face is the best predictor of the brain.Am J Hum Genet47: A68.
