| BESM | bovine embryonic skeletal muscle |
|---|---|
| COFS | cerebro-oculo-facial-skeletal [syndrome] |
| hSGF | human skeletal growth factor |
| SCARF | skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities [s... |
| SGF | sarcoma growth factor; skeletal growth factor |
| anhidrotic ectodermal dysplasia | A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Inheritance: mostly sex-linked (X chromosome). Origin: Gr. Plassein = to form (12 Nov 1997) |
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| anterofacial dysplasia | Abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram. (05 Mar 2000) |
| arrhythmogenic right ventricular dysplasia | A congenital cardiomyopathy in which transmural infiltration of adipose tissue results in weakness and aneurysmal bulging of the infundibulum, apex, and posterior basilar region of the right ventricle and leads to ventricular tachycardia arising in the right ventricle. (12 Dec 1998) |
| asphyxiating thoracic dysplasia | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| bronchopulmonary dysplasia | <embryology, paediatrics> A form of chronic lung disease of uncertain cause sometimes seen in children who have received mechanical respiratory support (with high oxygenation) in the neonatal period. Often associated with those infants who have been treated for hyaline membrane disease. Origin: Gr. Plassein = to form (27 Sep 1997) |
| mammary dysplasia | An obsolete term for fibrocystic condition of the breast. (05 Mar 2000) |
| mandibulofacial dysplasia | A hereditary disorder occurring in two forms: the complete form (franceschetti's syndrome) is characterised by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (treacher collins syndrome) is characterised by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (12 Dec 1998) |
| ventriculoradial dysplasia | A congenital syndrome consisting of a ventricular septal defect with associated absence of thumb or radius. (05 Mar 2000) |
| cerebral dysplasia | Abnormal development of the telencephalon. (05 Mar 2000) |
| retinal dysplasia | <ophthalmology> Congenital, often bilateral, retinal abnormality characterised by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary. (12 Dec 1998) |
| cervical dysplasia | A term which describes precancerous changes to the epithelial cells lining the cervix. The diagnosis is made from the microscopic examination of a PAP smear acquired tissue specimen. Less than 5% of all PAP smears will show cervical dysplasia. The peak incidence is in women 25 to 35 years of age. Risk factors include multiple sexual partners, early onset of sexual activity (less than 18), early childbearing (less than 16) and past medical history of a sexually transmitted disease (for example genital warts, genital herpes, HIV infection). Treatment is based on the degree of dysplasia present, as judged by a pathologist. Treatments include cryotherapy and conisation. Origin: Gr. Plassein = to form (27 Sep 1997) |
| cervix dysplasia | A spectrum of histologic changes in the epithelium of the cervix uteri which may begin as a superficial lesion and progress to invasive carcinoma. (12 Dec 1998) |
| periapical cemental dysplasia | <dentistry> A benign, painless, non-neoplastic condition of the jaws which occurs almost exclusively in middle-aged black females. The lesions are usually multiple, most frequently involve vital mandibular anterior teeth, surround the root apices, and are initially radiolucent (becoming more opaque as they mature). Synonym: periapical osteofibrosis. (21 Jun 2000) |
| metaphyseal dysplasia | <radiology> (Pyle disease) also known as: craniometaphyseal dysplasia, autosomal recessive, failure of modeling of cylindrical bones, Erlenmeyer flask appearance of metaepiphyses (12 Dec 1998) |
| metaphysial dysplasia | An abnormality that occurs when new bone at the metaphyses of long bones fails to undergo remodeling to the normal tubular structure; the ends of long bones appear to be expanded and porotic, with thin cortex; there may be an associated overgrowth of cranial bones (craniometaphysial dysplasia). (05 Mar 2000) |