Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: A new syndrome or Fryns "anophthalmia-plus" syndrome?
Yükleniyor...
Dosyalar
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Alliance Communications Group Division Allen Press
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Objective: 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.
Açıklama
Saglam, Ibrahim/0000-0002-1706-4444
WOS: 000256241500005
PubMed: 18452356
WOS: 000256241500005
PubMed: 18452356
Anahtar Kelimeler
anophthalmia, cleft lip/palate, Fryns anophthalmia-plus, microphthalmia, nystagmus, single central incisor tooth, vomer
Kaynak
Cleft Palate-Craniofacial Journal
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
45
Sayı
3
