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Browsing by Author "Hodes, M.E."
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Item Brief clinical report: prune belly syndrome in an anencephalic male(Wiley, 1983-01) Hodes, M.E.; Butler, Merlin G.; Keitges, Elisabeth A.; Mirkin, L. David; Wills, Edward R.; Medical and Molecular Genetics, School of MedicineWe describe a postmature anencephalic infant with atrophy of the abdominal musculature (prune belly syndrome). Other associations of these conditions are noted.Item A Child With Radius Aplasia, Cleft of Lip and Palate, Microcephaly, and Unusual Chromosome Findings(Wiley, 1982-12) Butler, Merlin G.; Russell, Laura J.; Palmer, Catherine G.; Bull, Marilyn; Hodes, M.E.; Medical and Molecular Genetics, School of MedicineWe report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient’s syndrome may well be the extra chromosomal material.Item Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome)(Wiley, 1984-05-18) Butler, Merlin G.; Hodes, M.E.; Conneally, P.M.; Biegel, Angenieta A.; Wright, James C.; Department of Medical and Molecular Genetics, IU School of MedicineSchmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband is a 12-year-old boy with Addison disease, insulin dependent diabetes mellitus (IDDM), and vitiligo. Two of his eight sibs had either IDDM (sister) or vitiligo and hyperthyroidism (brother). His mother had hypothyroidism. Seven members of earlier generations apparently were also affected. We obtained peripheral blood for HLA and genetic analysis from 21 relatives in a family with 8 Schmidt syndrome individuals in three generations. HLA studies on 15 affected and unaffected relatives showed only 2 of 7 persons with B8-containing haplotypes. Therefore, no association exists between the B8-containing haplotype and the syndrome. We identified informative marker loci. No evidence for linkage of the Schmidt locus to any of the 14 markers was found and close linkage to esterase D and adenylate kinase and possibly properdin factor B was excluded.