Abstract:Introduction. Carpenter syndrome is a polymorphic disorder transmitted by autosomal recessive inheritance, caused by mutations in the RAB23 gene [1]. These genetic disorders are reflected on the biogenesis of intracranial structures. This syndrome was described for the first time in 1900 by the British doctor George Carpenter. It may include congenital heart diseases, mental retardation, hypogonadism, obesity, umbilical hernia, developmental disorder, bone anomalies and frequent respiratory infections. Carpent… Show more
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