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

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 dis...

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Bibliographic Details
Published inJournal of pediatric genetics (Birmingham, Ala.) Vol. 9; no. 4; pp. 289 - 292
Main Authors You, Jong In, Bang, Seul Ki, Yu, Seung-Young, Jin, Kyung Hyun
Format Journal Article
LanguageEnglish
Published Stuttgart · New York Georg Thieme Verlag KG 01.12.2020
Subjects
Case Report
oral-facial-digital syndrome
subretinal drusenoid deposit
coloboma
oral-facial-digital syndrome type IX
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Summary: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.
ISSN:2146-4596
2146-460X
DOI:10.1055/s-0039-1700973