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Rutherfurd syndrome revisited: intellectual disability is not a feature.
Clin Dysmorphol
July 2015
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.
Case report: Rutherfurd syndrome associated with Marfan syndrome.
Eur Arch Paediatr Dent
September 2008
Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England.
Background: Rutherfurd syndrome is a rare genetic disorder that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include abnormally shaped teeth, mental retardation and aggressive behaviour.
Case Report: His Consultant Clinical Geneticist referred a 2-year-old boy to the Dept.
A review of cases indicated that gingival fibromatosis occurs in a variety of genetic entities. High risk for epilepsy and oligophrenia is associated if hypertrichosis is present. Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; Rutherfurd syndrome with corneal dystrophy; Cowden syndrome with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of hypopigmentation, oligophrenia and athetosis.
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