| spondyloepiphyseal dysplasia | <radiology> Autosomal dominant, retinal detachment to blindness findings: delay in ossification, vertebral bodies: decreased height, anterior hypoplasia at T-L jx, incompletely ossified odontoid process, supernumerary epihyseal ossification centres of metacarpals (especially 1st, 2nd) to excessive elongation (also in cleidocranial dysostosis), pelvis: horizontal acetabular roofs, slow ossification of acetabulum and femoral head to fossae appear empty, varus deformity of femoral neck (12 Dec 1998) |
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| spondyloepiphysial dysplasia | A group of conditions characterised by growth insufficiency of the vertebral column, with flattening of vertebrae, and often involving the epiphyses at the hip and shoulder; results in dwarfism of the short trunk type, often also with short extremities, sometimes with other malformations; types with dominant, recessive [, and X-linked recessive inheritance have been described in different families. (05 Mar 2000) |
| neuronal intestinal dysplasia | Increased numbers of ganglion cells with myenteric plexus hyperplasia and increased acetylcholinesterase activity in nerves of the mucosa and submucosa. Clinically, neuronal hyperplasia mimics Hirschprung's disease. Similar findings are seen in patients with multiple endocrine neoplasia syndrome, type IIB, and in neurofibromatosis. Synonym: hyperganglionosis, neuronal intestinal dysplasia. (05 Mar 2000) |
| dentin dysplasia | An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (12 Dec 1998) |
| diaphyseal dysplasia, progressive | Progressive thickening of diaphyseal cortex of long bones. (12 Dec 1998) |
| diaphysial dysplasia | Progressive, symmetrical fusiform enlargement of the shafts of long bones characterised by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anaemia does not occur as a rule, as in osteopetrosis. Synonym: Engelmann's disease. (05 Mar 2000) |
| dysplasia | <embryology> Abnormality of development, in pathology, alteration in size, shape and organisation of adult cells. Origin: Gr. Plassein = to form (18 Nov 1997) |
| dysplasia epiphysialis hemimelia | A congenital maldevelopment and overgrowth of a tarsal or carpal bone. Synonym: dysplasia epiphysialis hemimelia. Origin: tarso-+ G. Megas, large (05 Mar 2000) |
| dysplasia epiphysialis multiplex | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
| dysplasia epiphysialis punctata | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
| oculoauriculovertebral dysplasia | A syndrome characterised by epibulbar dermoids, preauricular appendages, micrognathia, and vertebral and other anomalies. Synonym: Goldenhar's syndrome, OAV syndrome. (05 Mar 2000) |
| oculodentodigital dysplasia | Microphthalmia, coloboma, or anomalies of the iris associated with malformed and malpositioned teeth and with anomalies of the fingers including syndactyly, campylodactyly, or absent phalanges; autosomal dominant inheritance. (05 Mar 2000) |
| oculovertebral dysplasia | Microphthalmia, colobomas, or anophthalmia with small orbit, twisted face due to unilateral dysplasia of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations, and branched and hypoplastic ribs. Synonym: oculovertebral syndrome, Weyers-Thier syndrome. (05 Mar 2000) |
| odontogenic dysplasia | 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) |
| ophthalmomandibulomelic dysplasia | An autosomal dominant disorder with corneal clouding and multiple abnormalities of the mandible and limbs. (05 Mar 2000) |