脾功能不全综合征中胼胝体发育不全与眼失。一个可识别的联系?

Annales de genetique Pub Date : 1997-01-01

K Devriendt, G Naulaers, G Matthijs, K Van Houdt, H Devlieger, M Gewillig, J P Fryns

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引用次数: 0

摘要

我们提出一个新生儿与脾综合征和独特的相关特征胼胝体发育不全，眼肿和结肠瘤。先前报道的无脾患者的眼睛异常或胼胝体发育不全表明，这可能是一种明显的临床可识别的异常偏侧实体。

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Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?

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.

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Annales de genetique

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