Bloom-like syndrome with unusual skeletal anomalies

The propositus, a 12-year-old boy of Italian and German descent, presented clinically with dwarfism, malar hypoplasia, and congenital telangiectatic erythema which worsened with exposure to light. His phenotype resembled Bloom syndrome but he had less severe dwarfism, milder telangiectatic erythema, splenomegaly, and skeletal anomalies. However, cytogenetic studies on the blood sample revealed no increase in the number of sister chromatid exchanges in phytohemagglutinin-stimulated lymphocytes. The hands and feet are characterized by increased density of many of the epiphyses, particularly of the middle and distal phalanges. Some epiphyses are cone shaped. The entire carpus is diminished in size, occupying considerably less space than normal. There is a prominent pseudoepiphysis of the 2nd metacarpal and hallux deformity of the great toes. The skeletal age of 6 years was obtained at the chronologic age of 12 years. There is flattening and irregularity of the left femoral head suggesting Legg-Perthes disease and a single exostosis of the distal diaphysis of the right femur. The bone changes seen in the hand roentgenograms are quite unusual but resemble the findings in epiphyseal dysplasias, particularly the presence of the small carpals and the dense epiphyses. The cone shape of the epiphysis, however, does not fit very well with this. Thiemann syndrome has some coning of the epiphysis and sclerosis, and the trichopharyngeal syndrome may be associated with cone and ivory epiphyses, and Legg-Perthes disease.