Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial predilection. However, it has been considered to be due to a new dominant mutation. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and facial growth discrepancies. Main causes of death in such patients include pneumonia along with cardiac, respiratory and GI abnormalities. (+info)
Osteogenesis imperfecta.
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Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental treatment. Presented here a case of a four year old child suffering from osteogenesis imperfecta. (+info)
Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.
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