Polysyndactyly-cardiac malformation syndrome (PCMS), also known as Bonneau syndrome, first described in 1983 in three siblings of non-consanguineous normal parents, is a rare genetic disorder that affects limb and heart development. PCMS is characterized by polysyndactyly, congenital heart defects, and other abnormalities such as facial dysmorphism, growth retardation, and intellectual disability. The prevalence of PCMS is not known but is thought to be very low. The syndrome is usually fatal in utero or infancy, but some patients have survived with intensive medical care (Bonneau et al. 1983).

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Polysyndactyly with Cardiac Malformation

  • Mohammad Sadeq Najafi

摘要

Polysyndactyly-cardiac malformation syndrome (PCMS), also known as Bonneau syndrome, first described in 1983 in three siblings of non-consanguineous normal parents, is a rare genetic disorder that affects limb and heart development. PCMS is characterized by polysyndactyly, congenital heart defects, and other abnormalities such as facial dysmorphism, growth retardation, and intellectual disability. The prevalence of PCMS is not known but is thought to be very low. The syndrome is usually fatal in utero or infancy, but some patients have survived with intensive medical care (Bonneau et al. 1983).