Aicardi syndrome with holoprosencephaly and cleft lip and palate.
This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation. Furthermore, she had a cleft lip and palate and a severe brain malformation due to semilobar-type holoprosencephaly. This patient is the second reported with Aicardi syndrome and associated cleft lip and posterior palate; she is the first patient with an additional severe brain malformation due to semilobar-type holoprosencephaly.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D013036:Spasms, Infantile / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed