Melnick-needles syndrome in a mother and her son

The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full cheeks and small mandible), skeletal defects and short stature. The syndrome is considered to be lethal in males. Nevertheless, five surviving males are considered to represent new mutations. We are presenting an affected surviving male with the Melnick-Needles syndrome born to an affected mother.