Case Report

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

Umesh Chandra Parashari, Sachin Khanduri, Samarjit Bhadury, Fareena Akbar Qayyum
South African Journal of Radiology | Vol 15, No 4 | a359 | DOI: https://doi.org/10.4102/sajr.v15i4.359 | © 2011 Umesh Chandra Parashari, Sachin Khanduri, Samarjit Bhadury, Fareena Akbar Qayyum | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2011 | Published: 07 December 2011

About the author(s)

Umesh Chandra Parashari,, India
Sachin Khanduri, era lucknow medical college lucknow, India
Samarjit Bhadury, era lucknow medical college lucknow, India
Fareena Akbar Qayyum, era lucknow medical college lucknow, India


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Abstract

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.

Keywords

oculo-dento-digital-dysplasia, microphthalmia, mandibular retognathism, syndactyly, GJA1, microophthalmia, hypoplastic alae, hypotrichosis, X-rays, CT

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