[Elf facies in congenital idiopathic hypercalcemia macrocheilitis fissured tongue].
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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.
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A new syndrome with unique facial features, anorexia, cachexia, eye and skin anomalies affecting three family members is described. A possible mode of inheritance is suggested and various aspects of the phenotype are discussed.
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