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

Abstract

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.

• Authors: Derya Ozçelik, Ibrahim Sağlam, Fatma SIlan, Gülbin Sezen, Toygar Unveren
• Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J) Vol. 45 Issue 3 Pg. 256-60 (May 2008) ISSN: 1055-6656 [Print] United States
• PMID: 18452356 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple
• Anophthalmos
• Child, Preschool
• Cleft Lip (surgery)
• Cleft Palate
• Humans
• Intellectual Disability
• Male
• Nasal Septum (abnormalities)
• Nystagmus, Congenital
• Syndrome