title: Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.
abstract: Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge.
authors.affiliation: Department of Ophthalmology, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Manudhane
authors.forename: Ritu
authors.initials: R
authors.lastname: Arora
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.forename: Anju
authors.initials: A
authors.lastname: Rastogi
authors.forename: Jawahar Lal
authors.initials: JL
authors.lastname: Goyal
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis; D001927:Brain Diseases / Q000175:diagnosis; D020863:Central Nervous System Cysts / Q000175:diagnosis*; D003103:Coloboma / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D020547:Lateral Ventricles / Q000002:abnormalities; D054082:Lissencephaly / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis*