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Etiology and one-year follow-up results of hearing loss identified by screening of newborn hearing in Japan

โœ Scribed by Nodoka Adachi; Ken Ito; Hideaki Sakata; Tatsuya Yamasoba


Book ID
113834692
Publisher
SAGE Publications
Year
2010
Tongue
English
Weight
142 KB
Volume
143
Category
Article
ISSN
0194-5998

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## Abstract This study reports a 25โ€year followโ€up of a patient with De Hauwere syndrome (Axenfeldโ€“Rieger anomaly, hydrocephalus, and hearing loss) whose intelligence is normal. Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate gen