Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)
- 7 June 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 51 (2) , 131-136
- https://doi.org/10.1002/ajmg.1320510209
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.Keywords
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