Document Detail


Association of anophthalmia and esophageal atresia.
MedLine Citation:
PMID:  8585569     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other hand generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a development field. Concurrence of these defects appears to be non-random.
Authors:
D Sandler; A Mancuso; T Becker; R Zori; J Hellrung; J Silverstein; V Burton; A Hamosh; C Williams
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  59     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Dec 
Date Detail:
Created Date:  1996-03-19     Completed Date:  1996-03-19     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:  484-91     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Florida, Gainesville 32610-0296, USA.
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MeSH Terms
Descriptor/Qualifier:
Anophthalmos / diagnosis*,  pathology
Brain / abnormalities*
Esophageal Atresia / diagnosis*,  pathology
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Phenotype
Syndrome

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


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