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    
Abstract/OtherAbstract:
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
Related Documents :
1479096 - Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with c...
7200146 - An epidemiological and genetic study of facial clefting in france. i. epidemiology and ...
1246396 - The clinical syndrome of triploidy.
15184856 - Nager syndrome (preaxial acrofacial dysostosis): a case report.
3328186 - The sturge-weber syndrome.
20512536 - Hypnic headache.
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    
Affiliation:
Department of Plastic, Reconstructive, and Aesthetic Surgery, Düzce University, Düzce Medical Faculty, Düzce, Turkey. deryaozcelik68@yahoo.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Anophthalmos*
Child, Preschool
Cleft Lip / surgery*
Cleft Palate*
Humans
Male
Mental Retardation
Nasal Septum / abnormalities
Nystagmus, Congenital
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Timing of palatal surgery and speech outcome.
Next Document:  Conjoined twins with mirror-image cleft lip and palate: case report in Brazil.