Document Detail

XK-aprosencephaly and related entities.
MedLine Citation:
PMID:  16208689     Owner:  NLM     Status:  MEDLINE    
We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). Familial occurrence in the former born to presumably nonconsanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both had apparently normal chromosomes; however, the Lybian infant had slightly increased induced chromosome breakage suggesting that this rare multiple congenital anomalies syndrome may involve a DNA repair defect. Virtual absence of atelen/aprosencephalic structures may lead to an arthrogryposis-like prenatal movement disorder. The orbital tumor in the Utah infant consisted of dystopic neural tissue compressing a rudimentary globe and was connected by a thin bridge of neural tissue to the small mass of disorganized brain tissue usually found in atelen/aprosencephalic infants and fetuses. No evidence of an encephaloclastic process was found in the autopsied Utah infant.
G Renzetti; A Villani; C Bizzarri; L Chessa; E Vignati; A Gianotti; M Cappa; Juliana Szakacs; Jeanette J Townsend; Mark E Miller; John M Opitz; Anne M Kennedy; Janice L Byrne
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  138     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-10-26     Completed Date:  2006-03-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  401-10     Citation Subset:  IM    
Copyright Information:
Copyright 2005 Wiley-Liss, Inc
Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.
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MeSH Terms
Abnormalities, Multiple
Anencephaly / diagnosis,  pathology*,  radiography
Infant, Newborn
Survival Analysis

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