| Early death in two sisters with Hennekam syndrome. | |
| | |
MedLine Citation:
|
PMID: 10925377 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We report on two sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both patients had a number of other anomalies not previously described in this autosomal recessive disorder, i.e., primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome. These cases support the autosomal recessive transmission and the expansion of the phenotype of the Hennekam syndrome. |
| | |
Authors:
|
A Scarcella; A De Lucia; M B Pasquariello; P Gambardella |
Related Documents
:
|
3629517 - Cardiac and noncardiac malformations: observations in a population-based study. 1776417 - Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal re... 7514457 - The costello syndrome: report of a case and review of the literature. 1861547 - Mosaic 46,xy/92,xxyy,del(5)(q13 q34) in an adult lymphoblastic leukemia. 2842107 - Benign joint hypermobility with neuropathies: documentation and mechanism of median, sc... 16114047 - Acro-dermato-ungual-lacrimal-tooth (adult) syndrome: report of a child with phenotypic ... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics Volume: 93 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Jul |
Date Detail:
|
Created Date: 2000-10-16 Completed Date: 2000-11-30 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 181-3 Citation Subset: IM |
Affiliation:
|
Dipartimento di Pediatria, University of Naples, Federico II, Italy. aldscarc@unina.it |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis,
genetics*,
mortality*,
pathology Face / abnormalities, pathology Family Health Female Genes, Recessive Humans Hypothyroidism / genetics, mortality, pathology Infant Intestines / abnormalities, pathology Phenotype Protein-Losing Enteropathies / genetics, mortality, pathology Pyloric Stenosis / genetics, mortality, pathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in o...
Next Document: Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in ...