[Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?]

Abstract

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.