Document Detail


XK-aprosencephaly and related entities.
MedLine Citation:
PMID:  16208689     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
Related Documents :
18671689 - Critical heart defects--the diagnostic challenge.
1496959 - The changing epidemiology of neural tube defects. united states, 1968-1989.
17917009 - Robert a. good, the march of dimes, and immunodeficiency: an historical perspective.
1352419 - Cryptorchidism in newborns with gastroschisis and omphalocele.
18972209 - Birth defects and genetic disorders among arab americans--michigan, 1992-2003.
17689999 - Transient multiple acyl-coa dehydrogenation deficiency in a newborn female caused by ma...
24294279 - The coincidence of necrotizing enterocolitis and rotavirus infections and potential ass...
21949519 - Outcomes of small for gestational age micropremies depending on how young or how small ...
12269179 - Malthus on long swings: the general case.
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
Affiliation:
Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Anencephaly / diagnosis,  pathology*,  radiography
Female
Humans
Infant, Newborn
Male
Pedigree
Survival Analysis

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


Previous Document:  Evolution of the morphological innovations of feathers.
Next Document:  Novel sulfonated hydrogel composite with the ability to inhibit proteases and bacterial growth.