How is lethal popliteal 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

Lethal popliteal pterygium syndrome (OMIM 263650)

This is also known as Bartsocas-Papas syndrome and is an autosomal recessive disorder characterized by severe webs across the knee. In the newborn period, it is associated with facial clefting and fused digits (synostosis of the hand and foot bones). It is usually lethal.


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