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• W2002940960 abstract "Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). 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 inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma." @default.
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• W2002940960 date "2012-01-11" @default.
• W2002940960 modified "2023-10-17" @default.
• W2002940960 title "Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI" @default.
• W2002940960 cites W1971107651 @default.
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• W2002940960 cites W1984827567 @default.
• W2002940960 cites W1985225356 @default.
• W2002940960 cites W1985381660 @default.
• W2002940960 cites W1986054713 @default.
• W2002940960 cites W1986170218 @default.
• W2002940960 cites W1990931573 @default.
• W2002940960 cites W1993828299 @default.
• W2002940960 cites W1995905296 @default.
• W2002940960 cites W1998494322 @default.
• W2002940960 cites W2004009888 @default.
• W2002940960 cites W2004044775 @default.
• W2002940960 cites W2007510388 @default.
• W2002940960 cites W2007837064 @default.
• W2002940960 cites W2008984914 @default.
• W2002940960 cites W2013938815 @default.
• W2002940960 cites W2016559364 @default.
• W2002940960 cites W2016947680 @default.
• W2002940960 cites W2018873670 @default.
• W2002940960 cites W2021165556 @default.
• W2002940960 cites W2024206959 @default.
• W2002940960 cites W2025963445 @default.
• W2002940960 cites W2027977273 @default.
• W2002940960 cites W2029554412 @default.
• W2002940960 cites W2030342280 @default.
• W2002940960 cites W2036162504 @default.
• W2002940960 cites W2036600747 @default.
• W2002940960 cites W2041964741 @default.
• W2002940960 cites W2056803363 @default.
• W2002940960 cites W2057492396 @default.
• W2002940960 cites W2060331223 @default.
• W2002940960 cites W2064966510 @default.
• W2002940960 cites W2068925060 @default.
• W2002940960 cites W2076435963 @default.
• W2002940960 cites W2081869368 @default.
• W2002940960 cites W2090372695 @default.
• W2002940960 cites W2093964879 @default.
• W2002940960 cites W2095913712 @default.
• W2002940960 cites W2101266961 @default.
• W2002940960 cites W2108545390 @default.
• W2002940960 cites W2109619263 @default.
• W2002940960 cites W2112101855 @default.
• W2002940960 cites W2113764519 @default.
• W2002940960 cites W2114339744 @default.
• W2002940960 cites W2120185413 @default.
• W2002940960 cites W2121416524 @default.
• W2002940960 cites W2125636494 @default.
• W2002940960 cites W2128780808 @default.
• W2002940960 cites W2141813845 @default.
• W2002940960 cites W2142443214 @default.
• W2002940960 cites W2144875270 @default.
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• W2002940960 doi "https://doi.org/10.1186/1750-1172-7-4" @default.
• W2002940960 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3313869" @default.
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