Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.

Abstract

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.

• Authors: Soumya Patra, Radheshyam Purkait, Tryambak Samanta, Ramchandra Bhadra
• Journal: Annals of Indian Academy of Neurology (Ann Indian Acad Neurol) Vol. 16 Issue 2 Pg. 289-91 (Apr 2013) ISSN: 0972-2327 [Print] India
• PMID: 23956587 (Publication Type: Case Reports)