[Goniodysgenesis associated with Rubinstein-Taybi syndrome].
Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.
Katedry i Kliniki Okulistycznej AM we Wrocławiu.
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Turno-Krecicka
D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005901:Glaucoma / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000175:diagnosis*