title: Delleman Oorthuys syndrome.
abstract: Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management.
authors.affiliation: Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
authors.forename: Syed Wajahat A
authors.initials: SW
authors.lastname: Rizvi
authors.affiliation: Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
authors.forename: Mohammed Azfar
authors.initials: MA
authors.lastname: Siddiqui
authors.affiliation: Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
authors.forename: Adeeb A
authors.initials: AA
authors.lastname: Khan
authors.affiliation: Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
authors.forename: Ziya
authors.initials: Z
authors.lastname: Siddiqui
mesh_terms: D016080:Arachnoid Cysts / Q000175:diagnosis; D020863:Central Nervous System Cysts / Q000150:complications* / Q000473:pathology; D003103:Coloboma / Q000175:diagnosis; D003560:Cysts / Q000175:diagnosis; D005124:Eye Abnormalities / Q000150:complications* / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009916:Orbital Diseases / Q000175:diagnosis; D012868:Skin Abnormalities / Q000150:complications* / Q000473:pathology
keywords: Dermal Hypoplasia; Oculocerebrocutaneous Syndrome; Orbital Cysts