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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
1   Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea
,
Seul Ki Bang
1   Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea
,
Seung-Young Yu
1   Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea
,
Kyung Hyun Jin
1   Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea
› Author Affiliations
Further Information

Publication History

20 August 2019

02 December 2019

Publication Date:
21 January 2020 (online)

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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
 

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