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Joubert syndrome: an affected female with bilateral colobomata.
Pathology. 2000 Nov; 32(4):283-5.P

Abstract

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.

Authors+Show Affiliations

Department of Anatomical Pathology, ACT Pathology, The Canberra Hospital, Woden, Australia.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11186426

Citation

Dahlstrom, J E., et al. "Joubert Syndrome: an Affected Female With Bilateral Colobomata." Pathology, vol. 32, no. 4, 2000, pp. 283-5.
Dahlstrom JE, Cookman J, Jain S. Joubert syndrome: an affected female with bilateral colobomata. Pathology. 2000;32(4):283-5.
Dahlstrom, J. E., Cookman, J., & Jain, S. (2000). Joubert syndrome: an affected female with bilateral colobomata. Pathology, 32(4), 283-5.
Dahlstrom JE, Cookman J, Jain S. Joubert Syndrome: an Affected Female With Bilateral Colobomata. Pathology. 2000;32(4):283-5. PubMed PMID: 11186426.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Joubert syndrome: an affected female with bilateral colobomata. AU - Dahlstrom,J E, AU - Cookman,J, AU - Jain,S, PY - 2001/2/24/pubmed PY - 2001/3/3/medline PY - 2001/2/24/entrez SP - 283 EP - 5 JF - Pathology JO - Pathology VL - 32 IS - 4 N2 - Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome. SN - 0031-3025 UR - https://www.unboundmedicine.com/medline/citation/11186426/Joubert_syndrome:_an_affected_female_with_bilateral_colobomata_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=11186426.ui DB - PRIME DP - Unbound Medicine ER -