Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.

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 α 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.

Objectives

To study the Molecular Genetics of Oculodentodigital syndrome.

Patients/materials and methods

Our current study includes a Pakistani family affected with ODD. Clinical evaluation revealed that this family shows typical form of ODD with Syndactyly type III. Mutations in GJA1 have been reported in ODD and also in syndactyly type III. I

SUBMITTER: Nishat S 

PROVIDER: S-EPMC3399675 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature