Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit

Jong In You; Seul Ki Bang; Seung-Young Yu; Kyung Hyun Jin

doi:10.1055/s-0039-1700973

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2020; 09(04): 289-292
DOI: 10.1055/s-0039-1700973

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit

Jong In You

¹Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea

,

Seul Ki Bang

¹Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea

,

Seung-Young Yu

¹Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea

,

Kyung Hyun Jin

¹Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea

› Author Affiliations

Abstract

We describe a patient with oral-facial-digital syndrome (OFDS) with the following anomalies: cleft lip, cleft palate, micrognathia, hypertelorism, nasal septum deviation, thumb polydactyly in the right hand, and partial agenesis of the corpus callosum. In addition, the patient had optic disc coloboma in the left eye and subfoveal drusenoid deposit in the right eye, features of OFDS type IX. Subfoveal drusenoid deposit has not been previously reported in OFDS type IX. Evaluation of the fundus is necessary for diagnosis of OFDS.

Keywords

oral-facial-digital syndrome - oral-facial-digital syndrome type IX - coloboma - subretinal drusenoid deposit

Full Text

References

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