Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations

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Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations.

Dentinogenesis Imperfecta (DI) or hereditary opalescent dentin is inherited in a simple autosomal dominant mode with high penetrance and low mutation rates. It generally affects both the deciduous and the permanent dentitions. DI corresponds to a localized form of mesodermal dysplasia which is observed in the histo-differentiation. An early diagnosis and treatment are therefore fundamental, whi...

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Dentinogenesis imperfecta type II: an affected family saga.

Dentinogenesis imperfecta (DI) type II or hereditary opalescent dentin is inherited in simple autosomal dominant mode with high penetrance and low mutation rate. It generally affects both the deciduous and permanent dentitions. DI type II corresponds to a localized form of mesodermal dysplasia, observed in histodifferentiation. Early diagnosis and treatment are therefore, fundamental, aiming at...

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A Case Report of Incontinentia Pigmenti in a Newborn with Positive Family History Extending Over Three Generations

Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that presents at the time of birth or soon after birth with cutaneous manifestation. This disorder may also affect the ectodermal tissues, such as the central nervous system, skeletal system, eyes, hair, nails, and teeth. The dermatological findings occur in four successi...

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Buphthalmos over Three Generations.

Case Reports Case 1, a female child (IV, 3 in Pedigree) born on December 23, 1958, was noticed to have opaque corneae, of sufficient degree to prevent any estimate of the size of the pupils. There was corneal oedema but no appreciable abnormality of the corneal diameter. In the course of a few days the cornea of each eye had become obviously enlarged and a definite buphthalmos had become establ...

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ژورنال

عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH

سال: 2013

ISSN: 2249-782X

DOI: 10.7860/jcdr/2013/5723.3286