Manudhane Aditi, Arora Ritu, Kapoor Seema, Rastogi Anju, Goyal Jawahar Lal
Department of Ophthalmology, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):109-11. doi: 10.3109/13816810.2012.729645. Epub 2012 Dec 6.
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.
德勒曼综合征(眼脑皮肤综合征,MIM 164180)的特征为眼眶囊肿、小眼畸形/无眼畸形、局限性皮肤缺损、皮肤附属器及多种脑畸形。我们在此描述一例8个月大的男童,其特征提示为德勒曼综合征,同时伴有一种罕见的先天性眼睑异常——副睑裂孔,据我们所知,此前尚无相关报道。