Congenital accessory palpebral aperture - An addition to the spectrum of Delleman syndrome

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...

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Bibliographic Details
Published in:Ophthalmic genetics 2013-03, Vol.34 (1-2), p.109-111
Main Authors: Manudhane, Aditi, Arora, Ritu, Kapoor, Seema, Rastogi, Anju, Goyal, Jawahar Lal
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Agenesis of Corpus Callosum - diagnosis
Brain Diseases - diagnosis
Central Nervous System Cysts - diagnosis
Coloboma - diagnosis
Eye Abnormalities - diagnosis
Eyelids - abnormalities
Fingers - abnormalities
Humans
Infant
Lateral Ventricles - abnormalities
Lissencephaly - diagnosis
Magnetic Resonance Imaging
Male
Skin Abnormalities - diagnosis
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Description
Summary: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.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810.2012.729645