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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.
In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusio …
In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterize …
Clinical features and revised diagnostic criteria in Joubert syndrome.
Maria BL, Boltshauser E, Palmer SC, Tran TX. Maria BL, et al. J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1. doi: 10.1177/088307389901400906. J Child Neurol. 1999. PMID: 10488903
Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. ...Although related conditions wi …
Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, …
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. J Med Genet. 2012. PMID: 22241855
BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. ...METHODS: Subjects with JS from 209 families were evalu …
BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign …
Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN, Zaki MS, Soliman NA, Momtaz M. Saleem SN, et al. Neuropediatrics. 2011 Feb;42(1):35-8. doi: 10.1055/s-0031-1275739. Epub 2011 Apr 15. Neuropediatrics. 2011. PMID: 21500139
Ultrasonography (US) showed non-specific cranial findings in both fetuses such as prominent cisterna magna and ventricular system as well as bilateral renal enlargement in the first case. MRI identified the molar tooth sign (MTS) and suggested a JSRD a …
Ultrasonography (US) showed non-specific cranial findings in both fetuses such as prominent cisterna magna and ventricular system as well as …
Anesthetic management of patients with Joubert syndrome: a retrospective analysis of a single-institutional case series.
Sriganesh K, Vinay B, Jena S, Sudhir V, Saini J, Umamaheswara Rao GS. Sriganesh K, et al. Paediatr Anaesth. 2014 Nov;24(11):1180-4. doi: 10.1111/pan.12472. Epub 2014 Jul 5. Paediatr Anaesth. 2014. PMID: 25040301
OBJECTIVE: To analyze the anesthetic techniques used for sedation during magnetic resonance imaging (MRI) study of patients with Joubert syndrome (JS) and assess the safety and efficacy of these anesthetic regimens in these children. ...MATERIALS AND M …
OBJECTIVE: To analyze the anesthetic techniques used for sedation during magnetic resonance imaging (MRI) study …