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Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hyp...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724097/ https://www.ncbi.nlm.nih.gov/pubmed/23956587 http://dx.doi.org/10.4103/0972-2327.112502 |
Sumario: | Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome. |
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