| 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.