Document Detail


Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21.
MedLine Citation:
PMID:  11168878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alveolar capillary dysplasia (ACD) has been described in conjunction with a number of congenital abnormalities. The case reported here was noted in utero to have duodenal atresia and a partial atrioventricular canal defect and a provisional diagnosis of trisomy 21 was considered. A fetal blood sample showed a normal karyotype. The diagnosis of ACD was made at post-mortem following a neonatal death on the tenth day. This case further highlights the range of congenital abnormalities that may be present in cases of ACD that may mimic other conditions, including trisomy 21, on antenatal scan. However, the absence of congenital anomalies, even in the same family, would not exclude the diagnosis of ACD.
Authors:
J McGaughran; D J Souter; C A Kuschel
Related Documents :
7977458 - Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.
20117768 - Preimplantation genetic diagnosis (pgd) for extremes--successful birth after pgd for a ...
20666188 - Vesiculopustular eruption in a neonate with trisomy 21 syndrome as a clue of transient ...
8630988 - Dicentric (1;15) in myeloid disorders.
10674668 - Norwalk-like virus and bacterial pathogens associated with cases of gastroenteritis onb...
16938568 - Translocation (10;11)(p12;q23) in childhood acute myeloid leukemia: incidence and compl...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of paediatrics and child health     Volume:  37     ISSN:  1034-4810     ISO Abbreviation:  J Paediatr Child Health     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-05-17     Revised Date:  2007-09-24    
Medline Journal Info:
Nlm Unique ID:  9005421     Medline TA:  J Paediatr Child Health     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  85-6     Citation Subset:  IM    
Affiliation:
Northern Regional Genetic Service, Auckland Hospital, Department of Obstetrics and Gynaecology and Newborn Services, National Women's Hospital, Auckland, New Zealand.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Arteriovenous Malformations / diagnosis*
Capillaries / abnormalities
Down Syndrome / diagnosis*
Fatal Outcome
Humans
Infant, Newborn
Male
Prenatal Diagnosis*
Pulmonary Alveoli / blood supply*
Syndrome

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


Previous Document:  Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retin...
Next Document:  De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in...