Abstract
Introduction
Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias (an abnormal opening of the urethra on the underside of the penis).
Opitz is also known as oculo-genito-laryngeal syndrome and BBB/G compound syndrome.
About a quarter of all children with this syndrome have a cleft lip or palate. The syndrome can also include other facial abnormalities, such as a small jaw, ear abnormalities and a prominent forehead. Respiratory problems and congenital heart defects are also more common in children with Opitz syndrome.
The syndrome’s impact on intelligence varies and depends on the severity of associated brain malformations.
References
- Opitz G/BBB syndrome. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome.
- McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. Gene Reviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1523.
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- MID1. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/gene/MID1.
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Corresponding Author
Dr Niharika Nitya
PGT 3rd year, Dept. of Paediatrics, KMCH
DOI: https://dx.doi.org/10.18535/jmscr/v7i8.49
