Unusual manifestation of Marden-Walker syndrome

Indian J Hum Genet. 2012 May;18(2):256-8. doi: 10.4103/0971-6866.100798.

Abstract

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.

Keywords: Arthrogryposis; Marden-Walker syndrome; atrial septal defect; inguinal hernia; joint contracture.

Publication types

  • Case Reports