Document Detail


Perinatal autopsy findings in three cases of jugular lymphatic obstruction sequence and cardiac polyvalvular dysplasia.
MedLine Citation:
PMID:  17990911     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three infants with a prenatal diagnosis of Noonan's syndrome suffered fetal hydrops and immediate neonatal death. The infants all had the external appearance of jugular lymphatic obstruction sequence with wide-spaced nipples, redundant posterior nuchal skin, and edema of the dorsa of the feet and hands. All 3 demonstrated thick, redundant leaflets of all 4 cardiac valves, and 2 had a membranous ventricular septal defect. One female infant had a mutation of the PTPN11 gene. Two males had no common mutation of PTPN11. The males demonstrated other abnormalities in common, including small penis, testicular malformation, rosette-like appearance of the pituicytes, and an eosinophil infiltration of the pancreatic islets with islet cell hypertrophy. Detailed anatomy of cases of lymphatic obstruction sequence fetuses can be correlated with an increasing number of genetic mutations associated with Noonan's syndrome and related syndromes in mice and humans.
Authors:
Robert Bendon; Alexander Asamoah
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-06-12
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  11     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2008 Mar-Apr
Date Detail:
Created Date:  2008-04-29     Completed Date:  2008-06-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  133-7     Citation Subset:  IM    
Affiliation:
Department of Pathology, University of Louisville, Kosair Children's Hospital, 231 East Chestnut Street, Louisville, KY 40202, USA. Robert.Bendon@Nortonhealthcare.org
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Fatal Outcome
Female
Fetal Diseases / genetics,  pathology*
Gestational Age
Heart Valves / abnormalities*
Humans
Infant, Newborn
Lymphatic Diseases / pathology*
Lymphatic System / abnormalities*,  physiopathology
Male
Mutation
Neck
Noonan Syndrome / genetics,  pathology*
Penis / abnormalities
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
Testis / abnormalities
Chemical
Reg. No./Substance:
EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11

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


Previous Document:  Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnorm...
Next Document:  Unusual primary ocular neoplasm in a child: leiomyosarcoma of the ciliary body.