how to cite this article: barzegar m, sayadnasiri m, tabrizi a. epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia. iran j child neurol 2012; 6(3): 39-43. oculodentodigitalis dysplasia (oddd) is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. in addition,some patients develop neurological problems mostly a spastic parap...

A family is described with type III syndactyly and facies resembling the oculodentodigital dysplasia facial phenotype in the absence of any of the other characteristic findings of the latter condition. The relationship between type III syndactyly and oculodentodigital dysplasia is discussed.

Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder. The syndrome is characterized by abnormal facial features, central nervous system involvement, syndactyly and clinodactyly of fourth and fifth fingers, dry and lusterless hair, generalized enamel hypoplasia and odontodysplasia. Combination of odontodysplasia, poor oral hygiene, and parental neglect can lea...

how to cite this article: shakiba m, nejad biglari h, alaee mr. digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?iran j child neurol autumn 2012; 6(4): 51-54.   abstract several syndromes have been recognized with digital abnormality and cns involvement such as oculodentodigital dys...

BACKGROUND Diagnostic and surgical management of severe chronic angle- closure glaucoma secondary to ciliary body cysts can be difficult to manage in a patient with oculodentodigital dysplasia. CASE PRESENTATION A 6-year old girl with oculodentodigital dysplasia, with progressive chronic angle- closure glaucoma secondary to ciliary body cysts presented to our clinic. The initial examination r...

OBJECTIVES To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the connexin 43 transmembrane domain. DESIGN Oculodentodigital dysplasia is a rare autosomal dominant disease characterized by multiple systemic abnormalities, most commonly of the ocular, nasal, dental, and limb structures. Herein, we studied 2 patients with ODDD. We describe...

Introduction Oculodentodigital dysplasia (ODDD) is an autosomal dominant syndrome that presents with craniofacial and limb dysmorphisms caused by mutations in the GJA1 gene, which codes for connexin 43 (Cx43), a gap junction protein important in cell-to-cell communication. We present for the first time a family with ODDD, progressive cardiac conduction system disease, and dilated cardiomyopathy.