We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.
DeMyerW.. The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate.Neurology.1967; 17: 961–971.
GargA., ChughM., GaikwadS.B., ChandraS.P., GuptaV., MishraN.K., SharmaM.C.. Juvenile pilocytic astrocytoma presenting with subarachnoid hemorrhage. Case report and review of the literature.J Neurosurg.2004; 100: 525–529.
4.
GiffoniS.D.A., GoncalvesV.M.G., ZanardiV.A., Gil-da-Silva-LopesV.L.. Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia.Arq Neuropsiquiatr.2004; 62: 195–198.
5.
GiffoniS.D.A., GoncalvesV.M.G., ZanardiV.A., Gil-da-Silva-LopesV.L.. Cerebellar involvement in midline facial defects with ocular hypertelorism.Cleft Palate Craniofac J. In press.
6.
Gil-da-Silva-LopesV.L.. Malformação Frontonasal: Estudo Genético Clínico de 31 Pacientes Não Portadores de Quadros Sindrômicos Já Definidos.Campinas, Brazil: Universidade Estadual de Campinas;1997. Master Monograph.
7.
Gil-da-Silva-LopesV.L., GiffoniS.D.A.. Central nervous system abnormalities on midline facial defects with hypertelorism detected by Magnetic Resonance Image and Computed Tomography.Arq Neuropsiquiatr. In press.
8.
GouldingE.H., PrattR.M.. Isotretinoin teratogenicity in mouse whole embryo culture.J Craniofac Genet Dev Biol.1986; 6: 99–112.
9.
GuerriniR., DobynsW.B.. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.Neurology.1998; 51: 499–503.
10.
Guion-AlmeidaM.L., LopesV.L.. Oculoauriculofrontonasal spectrum in an adult Brazilian male.Clin Dysmorphol.1997; 6: 251–255.
11.
Guion-AlmeidaM.L., Richieri-CostaA., SaavedraD, CohenM.M.Jr. Frontonasal dysplasia: analysis of 21 cases and literature review.Int J Oral Maxillofac Surg.1996; 25: 91–97.
12.
GuizzettiM., BordiF., Dieguez-AcunaF.J., VitaloneA., MadiaF., WoodsJ.S., CostaL.G.. Nuclear factor kappaB activation by muscarinic receptors in astroglial cells: effect of ethanol.Neuroscience.2003; 120: 941–950.
13.
HoriA.. A brain with two hypophyses in median cleft face syndrome.Acta Neuropathol (Berl).1983; 59: 150–154.
LeesM.M., HodgkinsP., ReardonW., TaylorD., StanhopeR., JonesB., HaywardR., HockleyA.D., BaraitserM., WinterR.M.. Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases.Clin Dysmorphol.1998; 7: 157–162.
16.
NaidichT.P., OsbornR.E., BauerB., NaidichM.J.. Median cleft face syndrome: MR and CT data from 11 children.J Comput Assist Tomogr.1988; 12: 57–64.
17.
OktenA., MunganL., OrhanF., CakirM.. Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?Genet Couns.2005; 16: 101–105.
18.
Pascual-CastroviejoI., Pascual-PascualS.I., Pérez-HiguerasA.. Fronto-nasal dysplasia and lipoma of the corpus callosum.Eur J Pediatr.1985; 144: 66–71.
19.
PeraudA., HermsJ., SchlegelJ., MullerP., KretzschmarH., TonnJ.C.. Recurrent spinal cord astrocytoma with intraventricular seeding.Childs Nerv Syst.2004; 20: 114–118.
20.
Richieri-CostaA., Guion-AlmeidaM.L.. The syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies—phenotypic and aetiological considerations.Int J Med Sci.2004; 1: 34–42.
21.
SedanoH.O., GorlinR.J.. Frontonasal malformation as a field defect and in syndromic associations.Oral Surg Oral Med Oral Pathol.1988; 65: 704–710.
22.
SquiresL.A., ConstantiniS., MillerD.C., WisoffJ.H.. Hypothalamic hamartoma and the Pallister-Hall syndrome.Pediatr Neurosurg.1995; 22: 303–308.
23.
TorielloH.V., HigginsJ.V., MannR.. Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.Clin Dysmorphol.1995; 4: 338–346.
24.
TorielloH.V., RadeckiL.L., ShardaJ., LooyengaD., MannR.. Frontonasal “dysplasia,” cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.Am J Med Genet Suppl.1986; 2: 89–96.
25.
TorresL.F., JacobG.V., de NoronhaL., WernerB., MedeirosB.C., VialleE.N., DitzelL.. Pilocytic astrocytoma in childhood: presentation of six cases.J Pediatr (Rio J).1997; 73: 195–198.
26.
VersariP., TalamontiG., D'Aliberti, FontanaR., ColomboN., CasadeiG.. Leptomeningeal dissemination of juvenile pilocytic astrocytoma: case report.Surg Neurol.1994; 41: 318–321.
27.
WielandI., JakubiczkaS., MuschkeP., CohenM., ThieleH., GerlachK.L., AdamsR.H., WieackerP.. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.Am J Hum Genet.2004; 74: 1209–1215.
