How is multiple pterygium syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

Disorders that involve the limbs and other body parts [12]

Multiple pterygium syndrome

Multiple pterygium syndrome is heterogeneous (OMIM 265000, autosomal recessive; OMIM 178100, autosomal dominant). [15, 16] It is characterized as follows:

  • The autosomal recessive type is characterized by multiple joint contractures with marked pterygia, dysmorphic facies (flat, sad, motionless facial appearance), and cervical vertebral anomalies

  • The autosomal dominant type is characterized by multiple pterygia with or without MR

  • Multiple pterygium syndrome, characterized by pterygia with flexion contractures, scoliosis, and cleft palate, has been reported in several families and is associated with malignant hyperthermia

  • Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck that increases with age, webbing of the knees and elbows that develops before adolescence, multiple joint contractures, and lumbar lordosis [17]


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