Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?
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.
Ozçelik
Derya
D
Department of Plastic, Reconstructive, and Aesthetic Surgery, Düzce University, Düzce Medical Faculty, Düzce, Turkey. deryaozcelik68@yahoo.com
Sağlam
Ibrahim
I
SIlan
Fatma
F
Sezen
Gülbin
G
Unveren
Toygar
T
D000015:Abnormalities, Multiple; D000853:Anophthalmos; D002675:Child, Preschool; D002971:Cleft Lip / Q000601:surgery*; D002972:Cleft Palate; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009300:Nasal Septum / Q000002:abnormalities; D020417:Nystagmus, Congenital; D013577:Syndrome