Skin lesions include acne conglobata and thickening
of the skin. Hypertelorism, low nasal bridge, subocular folds, prominent
ears, teeth anomalies, and gingival hypertrophy result in a coarse facies.
Musculoskeletal anomalies comprise osteolysis, kyphoscoliosis,
brachydactyly, clinodactyly of the fifth finger, genu recurvatum, and
flexion contractures of the large joints. Radiologic findings include
vertebrae with reduced sagittal diameter, anterior beaking, and
abnormalities consistent with Scheuermann osteochondritis. Feet and hands
demonstrate osseous lacunae and cortical erosions. Mitral valve prolapse
may lead to heart failure. Psychomotor and intellectual development are normal.
Bilateral inguinal hernias were reported.