Document Detail

Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.
MedLine Citation:
PMID:  12457402     Owner:  NLM     Status:  MEDLINE    
Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.
Navdeep Nijhawan; Yair Morad; Jacqueline Seigel-Bartelt; Alex V Levin
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  113     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-11-28     Completed Date:  2003-10-03     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  320-5     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / diagnosis,  etiology,  pathology
Diseases in Twins
Embryonic and Fetal Development
Eye Abnormalities / diagnosis,  etiology,  pathology*
Goldenhar Syndrome / diagnosis,  etiology,  pathology*
Infant, Newborn
Prospective Studies
Erratum In:
Am J Med Genet. 2003 Apr 30;118A(3):304

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

Previous Document:  Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
Next Document:  Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de n...