title: Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.
abstract: We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.
authors.affiliation: Instituto di Discipline Pediatriche, Università di Torino, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: M P
authors.initials: MP
authors.lastname: Vardeu
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: D
authors.initials: D
authors.lastname: Franceschini
authors.forename: A
authors.initials: A
authors.lastname: Testa
authors.forename: A
authors.initials: A
authors.lastname: Corrias
authors.forename: P
authors.initials: P
authors.lastname: Chiabotto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000848:Anodontia / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D011596:Psychomotor Disorders / Q000235:genetics; D011629:Puberty, Precocious / Q000235:genetics*; D013577:Syndrome