| Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. | |
| | |
MedLine Citation:
|
PMID: 7538263 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. Joubert syndrome appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, eye, liver and kidneys. |
| | |
Authors:
|
S M Lewis; E A Roberts; M A Marcon; E Harvey; M J Phillips; S A Chuang; J R Buncic; J T Clarke |
Related Documents
:
|
20714363 - Cerebral and ocular congenital toxoplasmosis complicated by west syndrome. 6634063 - Congenital horizontal gaze paralysis and ear dysplasia--a syndrome. 17476653 - Multi-syndrome analysis of time series using pca: a new concept for outbreak investigat... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics Volume: 52 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Oct |
Date Detail:
|
Created Date: 1995-06-15 Completed Date: 1995-06-15 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: 419-26 Citation Subset: IM |
Affiliation:
|
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple*
/
pathology Cerebellum / abnormalities* Child, Preschool Developmental Disabilities Eye Abnormalities / pathology* Female Humans Infant Kidney / abnormalities* Liver Cirrhosis / congenital*, pathology Male Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental del...
Next Document: Vascular permeability factor/vascular endothelial growth factor, microvascular hyperpermeability, an...