A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome
β Scribed by W. Y. Chung; Lau Po Chung
- Book ID
- 105943026
- Publisher
- Springer-Verlag
- Year
- 1999
- Tongue
- English
- Weight
- 429 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0301-0449
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## Abstract The oralβfacialβdigital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789β792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retin
Oral-facial-digital syndrome type VI (OFDS VI) or Va Β΄radi syndrome is a rare autosomalrecessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Histopathologic characterization of the cerebellar ab