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Holoprosencephaly with Proboscis

Holoprosencephaly with Proboscis 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Gynecologic and Obstetric Investigation Karger

Holoprosencephaly with Proboscis

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Publisher
Karger
Copyright
© 1996 S. Karger AG, Basel
ISSN
0378-7346
eISSN
1423-002X
DOI
10.1159/000291893
Publisher site
See Article on Publisher Site

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.

Journal

Gynecologic and Obstetric Investigation – Karger

Published: Jan 1, 2010

Keywords: Holoprosencephaly; Ultrasonography, prenatal; Proboscis

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