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)

The HLA antigen distribution in 64 random scoliosis patients has been determined. Of the surgical group (greater than 50 degrees), the specificity W19 was increased. In the nonsurgical group (less than 45 degrees) the W19 specificity was also increased; however, the only specificity significantly increased was A29 (X2=11.64, P=less than .02). These observations are preliminary and more extensive work is needed to establish the relevance of the major histocompatibility system in the etiology and progression of idiopathic scoliosis.
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PMID:Histocompatibility determinants in idiopathic scoliosis. 85 81

A rare case of monozygotic twins revealing a mirror image of the first and second branchial arch syndrome with accessory ear and hemifacial microsomia, associated with unilateral cleft lip and palate, is presented. Although the concordance and/or discordance rate of monozygotic or dizygotic twins with cleft lip and palate is well reported, that of twinning of the first and second branchial arch syndrome has been very rarely described. First and second branchial arch syndrome occurs sporadically but cleft lip and palate are strongly related to the influence of environmental factors with a considerable hereditary tendency. The study of twinning of congenital anomalies is important in the investigation of the pathogenesis of genetic and environmental effects. The twins were diagnosed as monozygotic with almost complete certainty by ABO blood typing, HLA typing, finger prints, and DNA typing. Concordance was noticed, which suggests a hereditary tendency. Since concordance in these monozygotic twins was exhibited by a precise mirror image of first and second branchial arch syndrome, spinal scoliosis and cleft lip and palate, it is possible that an environmental factor induced these complex anomalies.
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PMID:A mirror image of the first and second branchial arch syndrome associated with cleft lip and palate in monozygotic twins. 854 64

We present a study of 28-year-old Japanese monozygotic female twins with Rett syndrome (RS). To our knowledge, this is the first report of monozygotic twins with RS from Japanese family. There are some differences between twins about seizures, scoliosis and stereotypical hand movements during adolescence. Monozygosity was confirmed by both blood typing and HLA titers.
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PMID:Japanese monozygotic twins with Rett syndrome. 944 Aug 4