title: Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.
abstract: Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.
authors.affiliation: Unité d'Échographies Obstétricales, Service de Gynécologie Obstétrique, Pôle Parents Enfants, Hôpital Saint-Joseph, Marseille, France; Institut de Médecine de la Reproduction, Marseille, France.
authors.forename: E
authors.initials: E
authors.lastname: Quarello
authors.forename: M
authors.initials: M
authors.lastname: Molho
authors.forename: C
authors.initials: C
authors.lastname: Garel
authors.forename: A
authors.initials: A
authors.lastname: Couture
authors.forename: M P
authors.initials: MP
authors.lastname: Legac
authors.forename: M L
authors.initials: ML
authors.lastname: Moutard
authors.forename: J P
authors.initials: JP
authors.lastname: Bault
authors.forename: C
authors.initials: C
authors.lastname: Fallet-Bianco
authors.forename: L
authors.initials: L
authors.lastname: Guibaud
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D020546:Fourth Ventricle / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D021621:Imaging, Three-Dimensional; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal / Q000379:methods
keywords: MRI; cerebellar vermis; ciliopathy; molar tooth sign; posterior fossa; ultrasound