Het syndroom van Joubert: Beschrijving, diagnostiek en begeleiding

D. E. Fransen Van De Putte; D. Lindhout; H. Y. Kroes

Het syndroom van Joubert: Beschrijving, diagnostiek en begeleiding

Translated title of the contribution: Joubert syndrome: Description, diagnosis and guidance

D. E. Fransen Van De Putte, D. Lindhout, H. Y. Kroes^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Joubert syndrome is a developmental brain disorder manifest from birth, with the hallmark characteristics of hypotonia, ataxia and a variable degree of psychomotor developmental delay. Other characteristic symptoms are episodic apnea and hyperpnea and abnormal ocular movements (oculomotor apraxia, nystagmus). Severe kidney and liver dysfunction and retarded growth are features in some patients. The diagnosis is confirmed by the presence of a characteristic 'molar tooth sign' on MRI-imaging of the brain. The differential diagnosis is discussed briefly. Inheritance is autosomal recessive. Four genes (AHI1, NPHP1, CEP290 and MKS3) and two loci are known to be involved in Joubert syndrome. Diagnostic DNA-testing is possible in some cases. Optimal care of Joubert patients requires a multidisciplinary approach.

Translated title of the contribution	Joubert syndrome: Description, diagnosis and guidance
Original language	Dutch
Pages (from-to)	148-152
Number of pages	5
Journal	Tijdschrift voor Kindergeneeskunde
Volume	75
Issue number	4
Publication status	Published - 1 Aug 2007

Cite this

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abstract = "Joubert syndrome is a developmental brain disorder manifest from birth, with the hallmark characteristics of hypotonia, ataxia and a variable degree of psychomotor developmental delay. Other characteristic symptoms are episodic apnea and hyperpnea and abnormal ocular movements (oculomotor apraxia, nystagmus). Severe kidney and liver dysfunction and retarded growth are features in some patients. The diagnosis is confirmed by the presence of a characteristic 'molar tooth sign' on MRI-imaging of the brain. The differential diagnosis is discussed briefly. Inheritance is autosomal recessive. Four genes (AHI1, NPHP1, CEP290 and MKS3) and two loci are known to be involved in Joubert syndrome. Diagnostic DNA-testing is possible in some cases. Optimal care of Joubert patients requires a multidisciplinary approach.",

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AB - Joubert syndrome is a developmental brain disorder manifest from birth, with the hallmark characteristics of hypotonia, ataxia and a variable degree of psychomotor developmental delay. Other characteristic symptoms are episodic apnea and hyperpnea and abnormal ocular movements (oculomotor apraxia, nystagmus). Severe kidney and liver dysfunction and retarded growth are features in some patients. The diagnosis is confirmed by the presence of a characteristic 'molar tooth sign' on MRI-imaging of the brain. The differential diagnosis is discussed briefly. Inheritance is autosomal recessive. Four genes (AHI1, NPHP1, CEP290 and MKS3) and two loci are known to be involved in Joubert syndrome. Diagnostic DNA-testing is possible in some cases. Optimal care of Joubert patients requires a multidisciplinary approach.

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Het syndroom van Joubert: Beschrijving, diagnostiek en begeleiding

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