title: Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.
abstract: We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.
authors.affiliation: Department of Pediatric Neurology, Clinica Pediatrica dell'Università di Catania, Italy. g.sorge@telmedia.it or sorge@mbox.unict.it
authors.forename: G
authors.initials: G
authors.lastname: Sorge
authors.forename: S
authors.initials: S
authors.lastname: Baieli
authors.forename: L
authors.initials: L
authors.lastname: Mauceri
authors.forename: F
authors.initials: F
authors.lastname: Greco
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
mesh_terms: D000293:Adolescent; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome