| amelogenesis imperfecta | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
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| dentinogenesis imperfecta | An autosomal dominant disorder of tooth development characterised by opalescent dentin resulting in discoloration of the teeth, ranging from dusky blue to brownish. The dentin is poorly formed with an abnormally low mineral content; the pulp canal is obliterated, but the enamel is normal. The teeth usually wear down rapidly, leaving short, brown stumps. (12 Dec 1998) |
| odontogenesis imperfecta | A localised arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (12 Dec 1998) |
| osteogenesis imperfecta | <orthopaedics, paediatrics> A group of genetic diseases of the bones. Divided into four types all result in brittle and frail bones. Multiple broken bones are common. Other features include deafness, white of the eyes appear bluish, kyphosis, kyphoscoliosis, tooth abnormalities, chest deformities and short stature. There is no specific treatment. Genetic counseling is important for families with the disease. (27 Sep 1997) |
| enamelogenesis imperfecta | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
| erythrogenesis imperfecta | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |