[Association of the CHARGE syndrome and imperforation of the lacrymal ducts].
Clinical description of a 12-year-old girl with a number of congenital abnormalities including retarded growth and an asymmetric facies. All the clinical features observed are compatible with the CHARGE association. Ocular anomalies are important bilateral colobomata associated with nystagmus and strabismus. Three among four of the lacrymal canaliculi are missing. This anomaly has not yet been described in the CHARGE syndrome. The discussion refers to all the clinical observations especially the ophthalmological features.
Bartik
M
M
U.L.B. Hôpital Erasme, Service d'Ophtalmologie, Bruxelles.
Cordonnier
M
M
Elmer
C
C
Mansbach
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003103:Coloboma / Q000175:diagnosis; D004431:Ear, External / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis*; D005146:Facial Asymmetry / Q000175:diagnosis*; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008279:Magnetic Resonance Imaging; D009301:Nasolacrimal Duct / Q000002:abnormalities*
Association de CHARGE et imperforation des voies lacrymales.