The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2007
Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Ozçelik Derya, Sağlam Ibrahim, SIlan Fatma, Sezen Gülbin, Unveren Toygar
Аннотация
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.
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.