Ocular findings in linear sebaceous naevus syndrome.
The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the naevus, bilateral hearing loss, asymmetrical skull bones, ventricular septal defect, epidermal inclusion cyst, and developmental delay without seizures.
D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000473:pathology; D001706:Biopsy; D002280:Basal Cell Carcinoma / Q000150:complications*; D005123:Eye / Q000473:pathology; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D012867:Skin / Q000473:pathology; D014792:Visual Acuity