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  • Title: [Weaver's syndrome. Apropos of a new case].
    Author: Trabelsi M, Ben Hariz M, Monastiri K, Taktak M, Bennaceur B.
    Journal: Ann Pediatr (Paris); 1990 May; 37(5):327-30. PubMed ID: 2369050.
    Abstract:
    We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.
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