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May 1964

Asymmetry, Short Stature, and Variations in Sexual Development: A Syndrome of Congenital Malformations

Author Affiliations

Henry K. Silver, MD, University of Colorado, Medical Center, 4200 E Ninth Ave, Denver, Colo 80220; From the Department of Pediatrics, University of Colorado School of Medicine.

Am J Dis Child. 1964;107(5):495-515. doi:10.1001/archpedi.1964.02080060497011

In 1953, we described the first of a series of patients with congenital asymmetry, shortness of stature, and elevated urinary gonadotropins.65 Although the asymmetry in the original cases involved an entire side of the body, in some of the later ones 63,67,73 the variation in size was limited to the spine or the extremities. These reports also indicated that an increased excretion of gonadotropins represented only one of the variations in the pattern of sexual maturation that may occur in children with this Syndrome.* Other findings which were noted in many of the cases included small size at birth despite being born at term, the presence of café au lait areas of the skin, unusually short and/or incurved fifth fingers, a tendency for the face to be triangular with a broad forehead tapering down to a narrow chin, downturning of the corners of the mouth which has the shape