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This study aimed to analyze the physical and psychosocial development of long-term survivors (age 1 year) of thanatophoric dysplasia (TD). The participants were 20 long-term survivors recruited from a cohort obtained through a nationwide survey for TD conducted across 147 pediatric departments in Japan between 2012 and 2016. Their guardians consented to participate in this study. Medical and psychosocial information was collected through questionnaires and interviews with primary physicians and guardians. The participants were 1.2-2
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