Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family
JOURNAL OF DERMATOLOGICAL CASE REPORTS, vol.6, no.2, pp.43-48, 2012 (ESCI, Scopus)
- Publication Type: Article / Article
- Volume: 6 Issue: 2
- Publication Date: 2012
- Doi Number: 10.3315/jdcr.2012.1094
- Journal Name: JOURNAL OF DERMATOLOGICAL CASE REPORTS
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, EMBASE
- Page Numbers: pp.43-48
- Keywords: diffuse skeletal dysplasia, GJA1 gene, Oculodentodigital Syndrome, Syndactyly Type III
- Istanbul University Affiliated: No
Abstract
Background: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein a 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis.