Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome
- PMID: 10508989
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome
Abstract
Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome. However, the nosology of these disorders remains uncertain. We reviewed reports of 100 children with cerebellar vermis hypoplasia, and ocular or renal involvement. Although the status of the upper brainstem was not adequately documented in most of these patients, some had hypoplasia and dysplasia of the ponto-mesencephalic isthmus and the superior portion of the cerebellar vermis, which results in a "molar tooth" sign on MRI scan. Several distinct syndromes were apparent among this group. We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-Löken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.
Copyright 1999 Wiley-Liss, Inc.
Similar articles
-
A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype.J Child Neurol. 2007 Feb;22(2):204-7. doi: 10.1177/0883073807300303. J Child Neurol. 2007. PMID: 17621483
-
Cerebello-oculo-hepato-renal syndrome with possible mitochondrial dysfunction.Jpn J Ophthalmol. 1993;37(1):62-9. Jpn J Ophthalmol. 1993. PMID: 8320867
-
Clinical nosologic and genetic aspects of Joubert and related syndromes.J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
-
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.Am J Med Genet. 1994 Oct 1;52(4):419-26. doi: 10.1002/ajmg.1320520406. Am J Med Genet. 1994. PMID: 7538263
-
Joubert syndrome: Molecular basis and treatment.J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Cited by
-
Cilia in cell signaling and human disorders.Protein Cell. 2010 Aug;1(8):726-36. doi: 10.1007/s13238-010-0098-7. Epub 2010 Aug 28. Protein Cell. 2010. PMID: 21203914 Free PMC article. Review.
-
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.
-
Review of Ocular Manifestations of Joubert Syndrome.Genes (Basel). 2018 Dec 4;9(12):605. doi: 10.3390/genes9120605. Genes (Basel). 2018. PMID: 30518138 Free PMC article. Review.
-
Clinical and molecular features of Joubert syndrome and related disorders.Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876931 Free PMC article. Review.
-
Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait.Korean J Ophthalmol. 2010 Dec;24(6):360-3. doi: 10.3341/kjo.2010.24.6.360. Epub 2010 Nov 23. Korean J Ophthalmol. 2010. PMID: 21165235 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources