title: Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
abstract: We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: K
authors.initials: K
authors.lastname: Keymolen
authors.forename: L
authors.initials: L
authors.lastname: Roelen
authors.forename: G
authors.initials: G
authors.lastname: Van Goethem
authors.forename: J
authors.initials: J
authors.lastname: Meireleire
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D001827:Body Height; D005147:Facial Bones / Q000002:abnormalities*; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D010641:Phenotype