Document Detail

Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?
MedLine Citation:
PMID:  12825068     Owner:  NLM     Status:  MEDLINE    
We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.
Yee Fong Choong; Patrick Watts; Elizabeth Little; Lyn Beck
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus     Volume:  7     ISSN:  1091-8531     ISO Abbreviation:  J AAPOS     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-25     Completed Date:  2003-10-02     Revised Date:  2006-04-21    
Medline Journal Info:
Nlm Unique ID:  9710011     Medline TA:  J AAPOS     Country:  United States    
Other Details:
Languages:  eng     Pagination:  226-7     Citation Subset:  IM    
Department of Ophthalmology, University Hospital of Wales, Cardiff, UK.
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MeSH Terms
Chromosomes, Human, Pair 5 / genetics
Cri-du-Chat Syndrome / genetics*
Gene Deletion*
Goldenhar Syndrome / genetics*,  pathology
Infant, Newborn

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