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A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation
  1. Ajay Gupta1,
  2. Christine M Hall2,3,
  3. Yvonne F Ransley4,
  4. Victoria A Murday1
  1. 1Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK
  2. Department of Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK
  3. 3The Institute of Child Health, Great Ormond Street, London WC1N 3JH, UK
  4. Department of Paediatrics, Epsom General Hospital, Dorking Road, Epsom, Surrey KT18 7EG, UK


    We describe a girl of Pakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blepharophimosis, narrow, beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, arachnodactyly, self-limiting congenital joint contractures, peculiar skeletal abnormalities, and normal growth and development. Further clinical and radiological delineation of the syndrome in this report suggests that the term “Marden-Walker-like syndrome without psychomotor retardation”, used in the first report to describe this condition, does not accurately reflect its clinical picture. The overall prognosis in this syndrome seems good.

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