Delineation of the da-Silva syndrome.
作者信息
Naritomi K, Tohma T, Goya Y, Shiroma N, Hirayama K
机构信息
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
出版信息
Am J Med Genet. 1994 Feb 1;49(3):313-6. doi: 10.1002/ajmg.1320490314.
PMID:8209892
Abstract
We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.
摘要
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