title: [Joubert syndrome combined with unilateral facial paralysis: a rare variant of Joubert syndrome].
abstract: We report the case of a mature newborn infant, which aroused attention 8 hours after birth due to an unexplainable paroxysmal tachypnea together with subsequently prolonged apnea. The combination of tachypnea, athetoid movement patterns, apraxia of the tongue, nystagmus and dysplasia of the cerebellum with dilation of the 4th ventricle, led to the diagnosis of Joubert-Syndrome. The child also showed a variation of a connatal unilateral facial nerve palsy, which has not previously been described in connection with a Joubert-Syndrome.
authors.affiliation: Kinderklinik des Marienhospital Witten, Universitätsklinik Essen.
authors.forename: M
authors.initials: M
authors.lastname: Stute
authors.forename: H C
authors.initials: HC
authors.lastname: Tödt
authors.forename: B
authors.initials: B
authors.lastname: Schlüter
authors.forename: H
authors.initials: H
authors.lastname: Pahl
authors.forename: U
authors.initials: U
authors.lastname: Oelschläger
mesh_terms: D001049:Apnea / Q000235:genetics*; D001072:Apraxias / Q000235:genetics*; D001264:Athetosis / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D013577:Syndrome
vernacular_title: Joubert-Syndrom in Kombination mit einseitiger Facialisparese: Eine seltene Variante des Joubert-Syndroms.