title: [Dysgenesis of the neural crest, ectoderm, mesoderm and fetal alcohol syndrome].
abstract: A case is described having malformation of the anterior chamber with bilateral high IOP combined with multiple ocular anomalies in a 13-year-old girl. Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype. In a chronically alcoholic mother, the association between these systemic and ocular anomalies constitutes a fetal alcohol syndrome. Although the anomalies of other derivatives of the neural crest have already been described in this context, certain of these anomalies, such as malformations of the ectoderm or mesoderm, have not been reported.
authors.affiliation: Cliniques ophthalmologiques universitaires de Zurich et Bâle.
authors.forename: X D
authors.initials: XD
authors.lastname: Martin
authors.forename: P A
authors.initials: PA
authors.lastname: Rabineau
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D000867:Anterior Chamber / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000196:embryology; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000196:embryology; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis* / Q000196:embryology; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008648:Mesoderm / Q000502:physiology*; D009432:Neural Crest / Q000503:physiopathology*; D009915:Orbit / Q000002:abnormalities
vernacular_title: Dysgénésie de la crête neurale, de l'ectoderme, du mésoderme et syndrome alcoolique foetal.