3-M syndrome in two sisters


address: Dr K Kozlowski, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. Fax: +61 2 9438 2562; email: susannes@chw.edu.au


Abstract:  3-M syndrome is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both microcephaly and mental retardation. The term 3-M syndrome originates from the common initial of the first three authors of the first report. The diagnosis is established by a combination of clinical history, clinical examination and radiographic findings. The present report shows two sisters whose facial features were slightly different from those usually reported. In addition, they presented with small nails and abnormal dermatoglyphics. The present report expands the phenotypic spectrum of 3-M syndrome.