Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia

Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we...

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Veröffentlicht in:Congenital anomalies 2012-06, Vol.52 (2), p.78-81
Hauptverfasser: Kurosawa, Kenji, Enomoto, Keisuke, Tominaga, Makiko, Furuya, Noritaka, Sameshima, Kiyoko, Iai, Mizue, Take, Hiroshi, Shinkai, Masato, Ishikawa, Hiroshi, Yamanaka, Michiko, Matsui, Kiyoshi, Masuno, Mitsuo
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Sprache:eng
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Zusammenfassung:Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P 
ISSN:0914-3505
1741-4520
DOI:10.1111/j.1741-4520.2012.00357.x