Article Text

PDF

Filippi syndrome: a new case with skeletal abnormalities.
  1. D Héron,
  2. T Billette de Villemeur,
  3. A Munnich,
  4. S Lyonnet
  1. Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.

    Abstract

    We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation confirms that this syndrome is a distinct, probably autosomal recessive entity.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.