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.
Devriendt
K
K
Center for Human Genetics, LEUVEN, Belgium.
Naulaers
G
G
Matthijs
G
G
Van Houdt
K
K
Devlieger
H
H
Gewillig
M
M
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D000853:Anophthalmos / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D007839:Functional Laterality / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome