[Congenital Hyposplenia with multiple additional anomalies: a variant of the Ivemark Syndrome].
We report an 18-months-old boy with congenital spleen hypoplasia and cardiovascular defects. Besides, several minor clinical manifestations such as facial anomalies, hypospadia glans penis, agenesis of the corpus callosum and iris anomalies were observed. A partial or complete lateralisation defect could be excluded. The patient's phenotype comprises a previously undescribed combination of major and minor clinical features of the Ivemark syndrome. The case indicates that a common genetic defect might be the cause of this syndrome, which shows a variable expression.
Nanan
R
R
Kinderklinik der Universität Würzburg. Nanan@mail.uni-wuerzburg.de
Wirbelauer
J
J
Werner
E
E
Schrod
L
L
Speer
C P
CP
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011008:Pneumococcal Infections / Q000175:diagnosis; D012772:Shock, Septic / Q000175:diagnosis; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome