How is lethal 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

Lethal multiple pterygium syndrome (OMIM 253290) [18]

This is an autosomal recessive disorder characterized by early death, hydrops, cystic hygroma, dysmorphic facies (eg, hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, low-set ears), marked webbing and flexion contractures of multiple joints, short neck, small chest, and hypoplastic lungs.

Classification by Hall [18, 19] and Entezami et al [20, 21] is as follows:

  • Type I (Gillin-Pryse-Davis syndrome): Multiple pterygia, pulmonary hypoplasia, genital anomalies, and marked flexed extremities with a reduced muscle mass

  • Type II (Chen syndrome) [22] : Multiple pterygia, hygroma colli, facial anomalies, undermodeled long bones, cartilaginous fusion of joints and bony fusion of the spinous processes of the vertebrae, polyhydramnios, hypoplastic lungs and heart, and diaphragmatic hernia

  • Type III (van Regemorter syndrome): Multiple pterygia, pulmonary hypoplasia, facial anomalies, thin extremities with reduced muscle mass, and fusions of the long tubular bones

  • Type IV (Herva syndrome): Multiple pterygia, degeneration of the anterior horn cells of the spinal cord, and observed particularly in Finland


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