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Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
  1. S Lyonnet,
  2. G Schwartz,
  3. G Gatin,
  4. Y de Prost,
  5. A Munnich,
  6. M Le Merrer
  1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-12, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.

    Abstract

    The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.

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