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Multiple Pterygium Syndrome

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Abstract

Multiple pterygium syndrome is a distinct syndrome consisting of a constellation of congenital anomalies characterized by pterygia of the neck, antecubital, popliteal and intercrural areas, numerous flexion contractures of the joints, growth retardation, ptosis, antimongoloid slant with or without epicanthal folds, cleft palate, scoliosis, vertebral anomalies, rocker bottom deformity of the feet, and genital anomalies.

Keywords

  • Cleft Palate
  • Malignant Hyperthermia
  • Flexion Contracture
  • Autosomal Recessive Inheritance
  • Gonadal Dysgenesis

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© 2006 Humana Press Inc.

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(2006). Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_134

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_134

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

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