Devriendt K, Naulaers G, Matthijs G, Van Houdt K, Devlieger H, Gewillig M, Fryns J P
Center for Human Genetics, LEUVEN, Belgium.
Ann Genet. 1997;40(1):14-7.
We present a newborn infant with the asplenia syndrome and unique associated features of corpus callosum agenesis, anophthalmia and coloboma. Previous reports of eye abnormalities or corpus callosum agenesis in patients with asplenia suggest that this may represent a distinct clinically recognisable entity of abnormal lateralisation.
我们报告了一名患有无脾综合征并伴有胼胝体发育不全、无眼畸形和缺损等独特相关特征的新生儿。先前关于无脾患者眼部异常或胼胝体发育不全的报告表明,这可能代表一种临床上可识别的独特的异常侧化实体。