title: Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.
abstract: Individuals with oculodentodigital dysplasia (ODDD) have a characteristic facial appearance and variable involvement of the eyes, teeth and fingers. Gutmann et al. (Am J Med Genet 41:18, 1990) drew attention to neurological symptoms as a feature in a proportion of individuals with ODDD and demonstrated white matter changes on cranial magnetic resonance imaging. The majority of cases described previously have family histories compatible with autosomal dominant inheritance. Until now, five families have been reported where autosomal recessive inheritance is more likely. Neurological symptoms were described in only one of these families but cerebral imaging was not performed. We describe clinical, including neurological and radiological findings, in two sisters with autosomal recessive ODDD.
authors.affiliation: Yorkshire Regional Genetics Service, St James University Hospital, Ashley Wing, Beckett Street, Leeds LS9 7TF, UK. Shelagh.joss@leedsth.nhs.uk
authors.forename: Shelagh K
authors.initials: SK
authors.lastname: Joss
authors.forename: Sam
authors.initials: S
authors.lastname: Ghazawy
authors.forename: Susan
authors.initials: S
authors.lastname: Tomkins
authors.forename: Mushtaq
authors.initials: M
authors.lastname: Ahmed
authors.forename: John
authors.initials: J
authors.lastname: Bradbury
authors.forename: Eamonn
authors.initials: E
authors.lastname: Sheridan
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D018389:Codon, Nonsense; D005124:Eye Abnormalities / Q000235:genetics*; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense