Echoencephalographic findings of Apert syndrome.
Although Apert syndrome has been characterized in the prenatal period and clinically described in the literature, postnatal echoencephalographic findings have not been reported. We present a case of Apert syndrome that shows bilateral periventricular cysts, unusual posterior downward curving of the lateral ventricles without evidence of hydrocephalus, along with a decreased anterior-posterior diameter of the cranial vault. Given that Apert syndrome, characterized by acrocephalosyndactyly, can give rise to numerous CNS abnormalities, echoencephalography could be used to further characterize Apert syndrome in the postnatal period.
Tilley
D H
DH
Ochsner Foundation Hospital, New Orleans, Louisiana, USA.
Bluth
E I
EI
Goldsmith
J P
JP
Kenney
A J
AJ
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000209:etiology; D004453:Echoencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging