Urofacial (Ochoa) Syndrome - A Case Report

Yashwanth, Radhakrishnan and Nallathambi, Chandra and Palliath, Mohandas and Puthiya, Gopinath M (2010) Urofacial (Ochoa) Syndrome - A Case Report. International Journal of Human Genetics, 10 (1-3). pp. 165-168.

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Abstract

Urofacial (Ochoa) syndrome is a very rare autosomal recessive disorder characterized by a peculiar inverted facial expression, mainly when smiling or crying and urinary abnormalities. A 5-year-old boy, born of nonconsanguineous marriage presented with characteristic facial grimace, enuresis, constipation and delayed milestones. An evaluation of GTG–banded metaphases revealed a normal karyotype with a paternally inherited variant chromosome 14 (14ps+). However, his father showed a normal phenotype. This is the first report of Ochoa syndrome from India.

Item Type: Article
Uncontrolled Keywords: Ochoa Syndrome. Urofacial Syndrome. Facial Grimace. Chromosome Variant
Subjects: Life Sciences > MLSC Manipal
Depositing User: KMC Manipal
Date Deposited: 07 Feb 2012 07:02
Last Modified: 07 Feb 2012 07:02
URI: http://eprints.manipal.edu/id/eprint/2838

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