Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI

Takanashi, Jun‐ichi; Tada, H; Ozaki, Hisashi; Barkovich, A. J.

doi:10.3174/ajnr.a1287

Cited by 8 publications

(7 citation statements)

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“…Supratentorial abnormalities have been reported occasionally in OFD VI, including absence of the pituitary gland [ 18 ], migration disorders [ 32 ], occipital encephalocele [ 33 , 34 ], or hypothalamic hamartoma [ 8 , 19 , 20 , 30 , 32 , 35 , 36 ]. In our cohort, however, supratentorial abnormalities were present in more than two-thirds of the patients, compared with about one-third of patients in other JSRD subgroups [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…In OFD VI, developmental delay and/or cognitive impairment were considered to be key features in the original report [ 17 ]. Four patients were shown to have a developmental quotient of 26-50 [ 18 , 19 , 30 ] and a full scale IQ of 46 was reported in another patient [ 32 ]. Normal cognitive functions (without formal IQ assessment) have only been reported in one patient, attending a regular school [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Poretti

Vitiello

Hennekam

et al. 2012

Orphanet J Rare Dis

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Poretti

Vitiello

Hennekam

et al. 2012

Orphanet J Rare Dis

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“…[45] The feet usually show preaxial-polydactyly[24–6] without[6] or with cutaneous syndactyly. [45] Oral findings commonly include lingual or sublingual-lump/nodules,[2457] oral frenula,[4] and highly arched and/or cleft-palate. [24–6] Common facial features are cleft-lip,[246] broad nasal tip/bridge,[245] hypertelorism,[246] epicanthic folds,[245] abnormal eye movements,[457] strabismus,[24] and low set ears.…”

Section: Discussionmentioning

confidence: 99%

“…[26] Psychomotor retardation is almost universal with rare exception. [4] Episodic tachypnea,[47] hypotonia and/or ataxia,[2457] growth failure,[24] and deafness[4] are often reported. Hypogonadism and/or cryptorchidism with micropenis,[24] hypoplastic epiglottis,[6] aortic stenosis,[2] hypothalamic hamartoma,[7] and subcortical-heterotopias[7] are also noted.…”

Section: Discussionmentioning

confidence: 99%

Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals

Mahato¹,

Pandey²

2012

Indian J Hum Genet

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Orofaciodigital syndrome type-VI (Varadi–Papp Syndrome) is a rare autosomal recessive disorder characterized by variable orofacial anomalies, central polydactyly of the hands, and cerebellar dysgenesis (mainly hypoplasia or aplasia of vermis, rarely Dandy–Waker anomaly). Here a case of Varadi–Papp syndrome with recurrent episodic tachypnea-apnea, minimal orofacial features, several Y-shaped metacarpals, and cerebellar vermis hypoplasia, diagnosed in the neonatal age, is reported for the first time in Indian literature. The importance of early accurate diagnosis of this rare disease for proper genetic counseling and prenatal case detection of pregnancy at risk is also emphasized as the prognosis is poor in almost all cases.

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“…One of the best characterized roles of primary cilia in corticogenesis relates to their function in the development of the corpus callosum, the largest fiber tract in the brain connecting the two cerebral hemispheres. Malformations of the corpus callosum are a hallmark of ciliopathies ( Tobin and Beales, 2009 ) and have been identified in Joubert ( Poretti et al, 2011 ), Meckel Gruber ( Salonen, 1984 ), Acrocallosal ( Odent et al, 1998 ; Holub et al, 2005 ; Takanashi et al, 2009 ; Putoux et al, 2011 ), and Orofacialdigital Syndrome patients. They can manifest as partial agenesis, hypoplasia across the entire structure or complete agenesis (ACC).…”

Section: Primary Cilia and Axon Pathfinding In The Cerebral Cortexmentioning

confidence: 99%

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

Hasenpusch‐Theil

Theil

2021

Front. Cell Dev. Biol.

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The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex neural tasks and confers humans with their unique cognitive capabilities. These activities require dozens of different types of neurons that are interconnected in complex ways. Due to this complexity, corticogenesis has been regarded as one of the most complex developmental processes and cortical malformations underlie a number of neurodevelopmental disorders such as intellectual disability, autism spectrum disorders, and epilepsy. Cortical development involves several steps controlled by cell–cell signaling. In fact, recent findings have implicated cilia in diverse processes such as neurogenesis, neuronal migration, axon pathfinding, and circuit formation in the developing cortex. Here, we will review recent advances on the multiple roles of cilia during cortex formation and will discuss the implications for a better understanding of the disease mechanisms underlying neurodevelopmental disorders.

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Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI

Cited by 8 publications

References 2 publications

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

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