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[Joubert syndrome].

Abstract

Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is severe.

Authors+Show Affiliations

Centre Hospitalier, Clinique Pédiatrique, Néonatologie, Luxembourg.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

7820905

Citation

De Jonghe, M, et al. "[Joubert Syndrome]." Bulletin De La Societe Des Sciences Medicales Du Grand-Duche De Luxembourg, vol. 131, no. 2, 1994, pp. 19-23.
De Jonghe M, Schroell M, Degremont-Weitzel C. [Joubert syndrome]. Bull Soc Sci Med Grand Duche Luxemb. 1994;131(2):19-23.
De Jonghe, M., Schroell, M., & Degremont-Weitzel, C. (1994). [Joubert syndrome]. Bulletin De La Societe Des Sciences Medicales Du Grand-Duche De Luxembourg, 131(2), 19-23.
De Jonghe M, Schroell M, Degremont-Weitzel C. [Joubert Syndrome]. Bull Soc Sci Med Grand Duche Luxemb. 1994;131(2):19-23. PubMed PMID: 7820905.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Joubert syndrome]. AU - De Jonghe,M, AU - Schroell,M, AU - Degremont-Weitzel,C, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 19 EP - 23 JF - Bulletin de la Societe des sciences medicales du Grand-Duche de Luxembourg JO - Bull Soc Sci Med Grand Duche Luxemb VL - 131 IS - 2 N2 - Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is severe. SN - 0037-9247 UR - https://www.unboundmedicine.com/medline/citation/7820905/[Joubert_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/3917 DB - PRIME DP - Unbound Medicine ER -