Neuropadiatrie. 1977 Feb;8(1):57-66.

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

Abstract

A unique syndrome consisting of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, associated with agenesis of the cerebellar vermis, has been delineated in four siblings by Joubert et al. (1969). We describe three other children with this clinically recognizable condition which we suggest to call Joubert syndrome. There is good evidence that it is inherited as autosomal recessive. Two of out patients were brothers, the third child's parents were related. Recognition of this syndrome is important in view of prognosis and for genetic counseling.

PMID:: 576733; [PubMed - indexed for MEDLINE]

MeSH Terms

LinkOut - more resources

Supplemental Content

Save items

Related citations in PubMed

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. [Neurology. 1969]
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Joubert M, Eisenring JJ, Robb JP, Andermann F. Neurology. 1969 Sep; 19(9):813-25.
Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969. [J Child Neurol. 1999]
Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969.
Joubert M, Eisenring JJ, Robb JP, Andermann F. J Child Neurol. 1999 Sep; 14(9):554-64.
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. [Dev Med Child Neurol. 1978]
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.
Friede RL, Boltshauser E. Dev Med Child Neurol. 1978 Dec; 20(6):758-63.
Review Clinical nosologic and genetic aspects of Joubert and related syndromes. [J Child Neurol. 1999]
Review Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72.
Review Cerebellar and brainstem development: an overview in relation to Joubert syndrome. [J Child Neurol. 1999]
Review Cerebellar and brainstem development: an overview in relation to Joubert syndrome.
Yachnis AT, Rorke LB. J Child Neurol. 1999 Sep; 14(9):570-3.

See reviews... See all...

Cited by 11 PubMed Central articles

Developmental disorders of the midbrain and hindbrain. [Front Neuroanat. 2012]
Developmental disorders of the midbrain and hindbrain.
Barkovich AJ. Front Neuroanat. 2012 Jan 7; 6:7. Epub 2012 Mar 6.
AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders. [Oncotarget. 2011]
AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.
Esmailzadeh S, Jiang X. Oncotarget. 2011 Dec; 2(12):918-34.
Joubert syndrome associated with severe central sleep apnea. [J Clin Sleep Med. 2010]
Joubert syndrome associated with severe central sleep apnea.
Wolfe L, Lakadamyali H, Mutlu GM. J Clin Sleep Med. 2010 Aug 15; 6(4):384-8.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and at...
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.
Neuropadiatrie. 1977 Feb ;8(1):57-66.

PubMed
Relapsed club foot. The early results of an evaluation of Dillwyn Evans' operati...
Relapsed club foot. The early results of an evaluation of Dillwyn Evans' operation.
J Bone Joint Surg Am. 1969 Mar ;51(2):270-82.

PubMed
Aggravation of diabetic hyperglycemia by chlordiazepoxide.
Aggravation of diabetic hyperglycemia by chlordiazepoxide.
JAMA. 1977 May 2 ;237(18):1960-1.

PubMed
Reversal of the stereospecificity of the citrate synthase of Clostridium kluyver...
Reversal of the stereospecificity of the citrate synthase of Clostridium kluyveri by p-chloromercuribenzoate.
Biochem Biophys Res Commun. 1969 Feb 7 ;34(3):271-6.

PubMed
Infantile agammaglobulinemia and immediate hypersensitivity to penicillin G.
Infantile agammaglobulinemia and immediate hypersensitivity to penicillin G.
JAMA. 1977 Apr 25 ;237(17):1852-3.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

Abstract

MeSH Terms

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 11 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information