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Holoprosencephaly with proboscis.

作者信息

Galguera M, Malave L, Leon A

机构信息

Dr. Ramón Ruiz Arnau University Hospital, Universidad Central del Caribe, School of Medicine, Bayamón, P.R., USA.

出版信息

Gynecol Obstet Invest. 1996;42(1):70-2. doi: 10.1159/000291893.

Abstract

This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype. The importance of ultrasonography in the prenatal diagnosis of this malformation is presented.

摘要

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