Holoprosencephalic disorders. Case report of a semilobar type.
A child with microcephaly, facial dysmorphisms, seizures, and congenital cardiopathy is presented. On the basis of skull x-rays, electroencephalogram, transillumination of the head, and computed tomography (CT) scan, the diagnosis of semilobar holoprosencephaly was made. The heterogeneous etiology of the disorder is discussed in order to evaluate the recurrence risk. The usefulness of CT scan for the classification in the different types of holoprosencephaly is stressed.
D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed