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Article: AN ADDITIONAL MANIFESTATION IN ACROCALLOSAL SYNDROME: TEMPORAL LOBE HYPOPLASIA
- Article from:
- Genetic Counseling
- Article date:
- April 1, 2008
- Author:
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Summary: An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia: Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and Polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, ...
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