[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?].
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.
D001846:Bone Development; D001848:Bone Diseases, Developmental; D003394:Craniofacial Dysostosis; D003937:Diagnosis, Differential; D004426:Ear Deformities, Acquired; D005145:Face; D006801:Humans; D006972:Hypertelorism; D007223:Infant; D008297:Male; D013577:Syndrome
Acceleration du developpement postnatal, hypertonie elargissement des phalanges medianes et des metaphyses distales du femur, facies particulier: s'agit-il d'un syndrome de Weaver?