We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY).
Methods:
For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair.
Conclusions:
This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns “anophthalmia-plus” syndrome or a new syndrome.
DellemanJ.W.OorthyuysJ.W.E.Orbital cysts in addition to congenital cerebral and focal dermal malformations: a new clinical entity?Clin Genet.1981; 19: 191–198.
3.
FrynsJ.P.LegiusE.MoermanP.VandenbergheK.Van den BergheH.Apparently new “anophthalmia-plus” syndrome in sibs.Am J Med Genet.1995; 58: 113–114.
4.
LeichtmanL.G.WoodB.RohnR.Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect.Am J Med Genet.1994; 50: 39–41.
5.
MakhoulI.R.SoudackM.KochaviO.GuilburdJ.N.MaimonS.Gershoni-BaruchR.Anophthalmia-plus syndrome: a clinical report and review of the literature.Am J Med Genet A.2007; 143: 64–68.
Richieri-CostaA.Guion-AlmeidaM.L.Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.Am J Med Genet.1993; 47: 702–706.
8.
RossiterJ.P.KhalifaM.M.NagS.Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate, and severe mental retardation: a possible new syndrome.Acta Neuropathol (Berl).2000; 99: 685–690.
9.
SamsonG.ViljoenD.A case of lateral facial cleft, cleft lip and palate, anophthalmia and microtia, clavicular agenesis and asternia.Clin Dysmorphol.1995; 4: 251–254.
10.
SemerciC.N.ZorluP.TopalY.IzbudakI.KaracanC.BalciS.Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?Am J Med Genet A.2003; 15: 253–255.
WarburgM.JensenH.PrauseJ.U.BolundS.SkovbyF.MirandaM.J.Anophthalmia—microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.Am J Med Genet.1997; 73: 36–40.
13.
WiltshireE.MooreM.CaseyT.SmithG.SmithS.ThompsonE.Fryns “anophthalmia-plus” syndrome associated with developmental regression.Clin Dysmorphol.2003; 12: 41–43.
