Radiographic diagnosis of a rare case of oculo-dento-digital dysplasia

SA Journal of Radiology

 
 
Field Value
 
Title Radiographic diagnosis of a rare case of oculo-dento-digital dysplasia
 
Creator Parashari, Umesh Chandra Khanduri, Sachin Bhadury, Samarjit Qayyum, Fareena Akbar
 
Subject radiology; head and neck imaging; dental radiology oculo-dento-digital-dysplasia, microphthalmia, mandibular retognathism, syndactyly, GJA1, microophthalmia, hypoplastic alae, hypotrichosis, X-rays, CT
Description Oculodentodigital dysplasia (ODDD), also known as oculodento-osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases reported in the scientific literature, suggesting an incidence of around 1 in 10 million people. It is marked mainly by eye abnormalities, craniofacial dysmorphism, dental anomalies, hand and foot malformations, various skeletal defects, and mildly delayed mental development. Neurological changes may appear earlier in each subsequent generation. This case report describes a radiological diagnosis of ODDD based on physical appearance, clinical features and radiographic findings in a 16-year-old girl.
 
Publisher AOSIS
 
Date 2011-12-07
 
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — Case report
Format text/html application/pdf
Identifier 10.4102/sajr.v15i4.359
 
Source South African Journal of Radiology; Vol 15, No 4 (2011); 134 2078-6778 1027-202X
 
Language eng
 
Relation
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:

https://sajr.org.za/index.php/sajr/article/view/359/476 https://sajr.org.za/index.php/sajr/article/view/359/475 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/635 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/636 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/637 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/638 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/639 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/359/640
 
Coverage asia 16 years, female, indian
Rights Copyright (c) 2011 Umesh Chandra Parashari, Sachin Khanduri, Samarjit Bhadury, Fareena Akbar Qayyum https://creativecommons.org/licenses/by/4.0
ADVERTISEMENT

International Tel: 021 975 2602

15 Oxford street, Durbanville, Cape Town, 7550 (South Africa)
Copyright © AOSIS (Pty) Ltd. All rights reserved.
No unauthorised duplication allowed