RESUMO
Pycnodysostosis, a rare bone disease is characterized by marble bone-like esseous deviations combined with multiple dysostosis. Physically there is a short stature. The head is broad with a froglike expression. The hands and feet are shortened with typical digital and nail anomalies however not always fully expressed. Clinically the disease is marked by multiple spontaneous fractures, and osteomyelitis of lower and upper jaw occurs frequently. In young children, probably due to the absence of the maxillary sinus, pulmonary complications occur, sometimes with a fatal outcome. Haematologically, it runs a benign course; leucocytosis and severe anaemia as in marble bone disease, were not observed. Genetically, is a recessive dominant disease and no chromosomal deviations could be demonstrated. The typical roentgenological features were present. Two families from Curacao and Bonaire were investigated and intermarriage consanguinity was present (AU)
