Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: A new syndrome or Fryns "anophthalmia-plus" syndrome?

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dc.contributor.authorÖzçelik, Derya
dc.contributor.authorSağlam, İbrahim
dc.contributor.authorSılan, Fatma
dc.contributor.authorSezen, Gülbin
dc.contributor.authorÜnveren, Toygar
dc.date.accessioned2020-04-30T22:39:26Z
dc.date.available2020-04-30T22:39:26Z
dc.date.issued2008
dc.departmentDÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.descriptionSaglam, Ibrahim/0000-0002-1706-4444en_US
dc.descriptionWOS: 000256241500005en_US
dc.descriptionPubMed: 18452356en_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.1597/06-249en_US
dc.identifier.endpage260en_US
dc.identifier.issn1055-6656
dc.identifier.issn1545-1569
dc.identifier.issue3en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage256en_US
dc.identifier.urihttps://doi.org/10.1597/06-249
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2722
dc.identifier.volume45en_US
dc.identifier.wosWOS:000256241500005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherAlliance Communications Group Division Allen Pressen_US
dc.relation.ispartofCleft Palate-Craniofacial Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectanophthalmiaen_US
dc.subjectcleft lip/palateen_US
dc.subjectFryns anophthalmia-plusen_US
dc.subjectmicrophthalmiaen_US
dc.subjectnystagmusen_US
dc.subjectsingle central incisor toothen_US
dc.subjectvomeren_US
dc.titleAnophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: A new syndrome or Fryns "anophthalmia-plus" syndrome?en_US
dc.typeArticleen_US

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