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

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

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

Ann Genet. 1997;40(1):14-7.

Authors

K Devriendt¹, G Naulaers, G Matthijs, K Van Houdt, H Devlieger, M Gewillig, J P Fryns

Affiliation

¹ Center for Human Genetics, LEUVEN, Belgium.

PMID: 9150845

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Agenesis of Corpus Callosum*
Anophthalmos / genetics*
Coloboma / genetics
Functional Laterality / genetics
Humans
Infant, Newborn
Male
Spleen / abnormalities*
Syndrome