Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of disorders with a known genetic basis which occur in orthopaedic practice is presented. Four groups of skeletal dysplasias are briefly described (short-limbed dwarfism, metaphyseal disorders, disorders of increased bone density and the storage diseases). Amongst the multifactorial defects, the aetiological relationship of congenital scoliosis with multiple vertebral anomalies to the neural tube defect is noted, as well as the high proportion of ankylosing spondylitis patients with HL-A27 antigen. A summary of current practice in antenatal diagnosis is given, including modern methods of detecting open neural tube defects by estimating alpha-fetoprotein.
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PMID:A review of genetics in orthopaedics. 80 81

The three main conditions affecting the musculoskeletal system currently being screened for are spina bifida cystica, congenital dislocation of the hip, and scoliosis. The techniques of screening are different for each: amniotic fluid analysis for spina bifida cystica, a manual physical examination for congenital dislocation of the hip, and a visual examination for scoliosis. Properly time amniotic fluid analysis for alpha-fetoprotein is both a sensitive and specific test for neural tube defects. However, because of the low incidence of spina bifida cystica, this examination is justified only in high-risk pregnancies. Maternal serum screening has not achieved widespread acceptance because of its lack of sensitivity and the low and apparently falling incidence of the deformity. The neonatal manual examination for congenital dislocation of the hip is now well established and widely practiced. Almost all agree that the incidence of persistent congenital dislocation of the hip has been lowered as a result. However, the examination lacks both sensitivity and specificity because of intrinsic difficulties with the examination and the occurrence of late onset subluxation and dislocation. It is becoming apparent that congenital dislocation of the hip is a dynamic problem in the peri- and early neonatal period. Repeated careful evaluation of the hips during infancy is necessary to make the diagnosis as early as possible. To further enhance early detection, it may be necessary to consider obtaining an anteroposterior pelvis radiograph at age 4 to 6 months in babies at high risk. The visual evaluation for scoliosis is a very sensitive test but lacks specificity. Efforts are now being made to quantify visual screening techniques and thus decrease the numbers of false-positive examinations.
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PMID:Screening for congenital dislocation of the hip, scoliosis, and other abnormalities affecting the musculoskeletal system. 378 1

Anterior abdominal wall defects are not too rare between developmental abnormalities. A case of abdominal wall defect associated with complex malformations diagnosed prenatally is reported in the paper. In the present case of limb-body wall complex a right sided abdominoschisis was associated with rotational abnormality of the lower limbs, clubfoot, scoliosis, meningomyelocele, lack of developed pelvic organs, consecutive dilatation of the upper urinary tract, anal atresia, lack of external genitalia, lack of diaphragm and hypoplastic lungs. Review of the pertinent literature has revealed over 100 cases that clearly indicate the possible phenotypic variation of the limb-body wall complex. These data add further evidence to support the existence of two different phenotypes and possibly pathogenesis under the heading of limb-body wall complex. The three principal theories on the possible aetiology of the complex are also discussed. Because the limb-body wall complex is incompatible with life, it is important to diagnose the lesions prenatally, and to differentiate them from other anterior abdominal wall defects. Serum alpha-fetoprotein measurement, and ultrasonographic examination are the key to prenatal diagnosis.
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PMID:[Limb-body wall malformation complex: an unusual developmental abnormality of the abdominal wall. Case report, clinicopathological and etiological implications]. 931 98