title: Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.
abstract: We describe an 11-year-old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter-Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter-Tönz syndrome.
authors.affiliation: Clinical Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Edda
authors.initials: E
authors.lastname: Haberlandt
authors.forename: Christine
authors.initials: C
authors.lastname: Svejda
authors.forename: Stefan
authors.initials: S
authors.lastname: Felber
authors.forename: Sara
authors.initials: S
authors.lastname: Baumgartner
authors.forename: Barbara
authors.initials: B
authors.lastname: Günther
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000567:Amelogenesis Imperfecta / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D012640:Seizures / Q000473:pathology*; D013577:Syndrome; D014071:Tooth Abnormalities