Affiliation:
1. Departments of Pediatrics, Medical Genetics, and Neuroradiology, University 'La Sapienza', Roma, Italy
Abstract
A child with microcephaly, facial dysmorphisms, seizures, and congenital car diopathy is presented. On the basis of skull x-rays, electroencephalogram, trans- illumination 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.
Subject
Pediatrics, Perinatology, and Child Health
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