Document Detail

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?
MedLine Citation:
PMID:  18452356     Owner:  NLM     Status:  MEDLINE    
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.
Derya Ozçelik; Ibrahim Sağlam; Fatma SIlan; Gülbin Sezen; Toygar Unveren
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-05-16
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  45     ISSN:  1055-6656     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-05-02     Completed Date:  2008-08-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  256-60     Citation Subset:  D; IM    
Department of Plastic, Reconstructive, and Aesthetic Surgery, Düzce University, Düzce Medical Faculty, Düzce, Turkey.
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MeSH Terms
Abnormalities, Multiple*
Child, Preschool
Cleft Lip / surgery*
Cleft Palate*
Mental Retardation
Nasal Septum / abnormalities
Nystagmus, Congenital

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