Alobar holoprosencephaly and Trisomy 13 (Patau syndrome)

Ano: 2013 | Volume: 3 | Número: 2

Autores: A. D. Costa, R. Schultz, S. Rosemberg

Palavras-chave: holoprosencephaly, nervous system malformations, patau syndrome, autopsy

Resumo Inglês:

Holoprosencephaly (HPE) is a congenital defect of the brain, median structures,
and face resulting from an incomplete cleavage of the primitive brain during
early embryogenesis. The authors report a case of trisomy 13 syndrome
diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and
died because of severe respiratory failure. The autopsy findings disclosed
facial, skull, limbs, cardiac, and cerebral malformations. Among the latter, the
presence of alobar HPE, the central theme of this report, was evident. The
most common nonrandom chromosomal abnormality in patients with HPE is
trisomy 13. The most severe variant, namely alobar HPE, is shown in this
case report. Discussion on this severe anomaly, along with the case report
with details of Patau’s syndrome, is the goal of this report.