title: Congenital cystic eye with multiple ocular and intracranial anomalies.
abstract: We describe a newborn with congenital cystic eye, contralateral persistent hyperplastic primary vitreous, and cerebrocutaneous abnormalities. The cerebrocutaneous abnormalities consisted of agenesis of the corpus callosum, midbrain deformity, malformed sphenoid bone, right upper eyelid coloboma, and a left periocular hamartoma. The results of karyotype analysis of the patient and his parents were normal. The association of congenital cystic eye with contralateral persistent hyperplastic primary vitreous has not been previously reported, to our knowledge. Although no unifying diagnosis exists for the collection of anomalies demonstrated in this patient, the term cranial ectodermopathy broadly classifies most of the defects.
authors.affiliation: Department of Opthalmology, Temple University Hospital, Philadelphia, Pa.
authors.forename: L R
authors.initials: LR
authors.lastname: Pasquale
authors.forename: N
authors.initials: N
authors.lastname: Romayananda
authors.forename: J
authors.initials: J
authors.lastname: Kubacki
authors.forename: M H
authors.initials: MH
authors.lastname: Johnson
authors.forename: G H
authors.initials: GH
authors.lastname: Chan
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D003103:Coloboma / Q000473:pathology; D003560:Cysts / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D005134:Eye Neoplasms / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities; D006222:Hamartoma / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014057:Tomography, X-Ray Computed