Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?
نویسندگان
چکیده
منابع مشابه
Oral-facial digital syndrome type 1.
The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology in addition to cleft palate and multiple masses on the tongue which resulted in feeding problems...
متن کاملOral-facial-digital syndrome.
Papillon-Leage and Psaume in 1954 reported a 'hereditary malformation of the buccal mucous membrane, and abnormal frena' (Papillon-Leage and Psaume, 1954a). Other French and German authors have since published full accounts of this condition, and Gorlin and Pindborg (1964) have summarized current knowledge of the syndrome in a recent textbook. They described it under the heading of orodigitofac...
متن کاملMalformations of cerebral cortical development in oral-facial-digital syndrome type VI.
Facial-Digital Syndrome Type VI Oral-facial-digital syndrome type VI (OFDS VI) or Váradi-Papp syndrome is a rare autosomal recessive disorder, distinguished from other type of OFDS by metacarpal abnormalities with central polydactyly; cerebellar abnormalities; and, sometimes, hypothalamic hamartomas. Affected patients present with hypotonia, cognitive impairment, irregular breathing, and oculom...
متن کاملPrenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple b...
متن کاملDelineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
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 ...
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ژورنال
عنوان ژورنال: Neuropediatrics
سال: 2015
ISSN: 0174-304X,1439-1899
DOI: 10.1055/s-0035-1550669