Kasuistikk: Pike født med OFD 1 : Presentasjon av et sjeldent syndrom, med fokus på betydningen av gode tverrfaglige samarbeid

Abstract

In 1954, Papillon-Léage and Psaume described a condition which was named the orofaciodigital syndrome. The condition was later split into at least nine syndromes, the more common being orofaciodigital syndrom type 1 (OFD1). Orofaciodigital syndrome type 1 is characterized by a number of abnormalities in the oral cavity, face and digits, including pseudocleft of the upper lip, tonguelobulation, hamartomata on the tongue, alveolar frenulae and clefting of the soft palate. I present a girl with clinical characteristics compatible with OFD1, including subcutaneous midline cleft in the upper and lower lip, cleft of the palate, bifid tongue and other oral manifestations consistent with the syndrome. The case shows the significance of centers who can offer highly specialized treatment based on a broad interdisciplinary cooperation.