A Probable 17-18 Trisomy Syndrome with Phocomelia, Exomphalos, and Agenesis of Hemidiaphragm.

During a survey of thalidomide embryopathy (Kajii and Shinohara, 1963), an infant with a peculiar combination of malformations was found among the 150 cases of the syndrome. This infant exhibited phocomelia of the left arm which resembled closely that of thalidomide embryopathy, but in addition showed most of the features characteristic of the 17-18 trisomy syndrome. In the 17-18 trisomy syndrome is seen a variety of deformities of the extremities: flexion of fingers with the index finger overriding the third and the fifth finger overriding the fourth; retroflexible thumb; short or long fifth finger; ulnar or radial deviation of the wrist; abnormal dermal patterns; hypoplastic fingerand toe-nails; rocker-bottom feet; hanmmer big toes; syndactyly of toes; posterior prominence ofheels; and limited hip adduction (Edwards, Harnden, Cameron, Crosse, and Wolff, 1960; Smith, Patau, Therman, and Inhorn, 1960, 1962; German, Rankin, Harrison, Donovan, Hogan, and Beam, 1962; Uchida, Bowman, and Wang, 1962; Gottlieb, Hirschhorn, Cooper, Lusskin, Moloshok, and Hodes, 1962; Hecht, Bryant, Motulsky, and Giblett, 1963). However, phocomelia of the arm has not been described in combination with this syndrome. In addition to phocomelia, the infant showed a giant exomphalos and agenesis of the left hemidiaphragm, hitherto undescribed in the 17-18 trisomy syndrome.