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Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

Research paper by M J MJ Stephan, K L KL Brooks, D C DC Moore, E J EJ Coll, C C Goho

Indexed on: 01 Jun '94Published on: 01 Jun '94Published in: American journal of medical genetics



Abstract

Oral-facial-digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy-Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI.