Clinical manifestations of oculodentodigital dysplasia
نویسندگان
چکیده
منابع مشابه
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
The coordination of tissue function is mediated by gap junctions (GJs) that enable direct cell-cell transfer of metabolic and electric signals. GJs are formed by connexins of which Cx43 is most widespread in the human body. In the brain, Cx43 GJs are mostly found in astroglia where they coordinate the propagation of Ca(2+) waves, spatial K(+) buffering, and distribution of glucose. Beyond its r...
متن کاملCase report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia
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...
متن کامل[Hereditary glaucoma associated with oculodentodigital dysplasia].
CASE REPORT A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and...
متن کاملDifferential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.
Oculodentodigital dysplasia (ODDD) is a congenital autosomal dominant disorder with phenotypic variability, which has been associated with mutations in the GJA1 gene encoding connexin43 (Cx43). Given that Cx43 mutants are thought to be equally co-expressed with wild-type Cx43 in ODDD patients, it is imperative to examine the consequence of these mutants in model systems that reflect this molar ...
متن کاملDental management of oculodentodigital dysplasia: a case report.
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...
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ژورنال
عنوان ژورنال: Journal of Indian Society of Pedodontics and Preventive Dentistry
سال: 2014
ISSN: 0970-4388
DOI: 10.4103/0970-4388.140973