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VOL. 7, ISSUE 3 (2021)
Oral-facial-digital syndrome- A case report
Authors
Surya Saini, Pawan Kumar, Shailendra Kaushik
Abstract
The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is trans‑ mitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Here we present a three month old baby who was born at our department with clinical phenotype of oral facial digital syndrome.
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Pages:77-78
How to cite this article:
Surya Saini, Pawan Kumar, Shailendra Kaushik "Oral-facial-digital syndrome- A case report ". International Journal of Medical and Health Research, Vol 7, Issue 3, 2021, Pages 77-78
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