Mandibuloacral Dysplasia in An Iranian Girl

andibuloacral dysplasia [MIM 248370(Mendelian Inheritance in Man)] is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acro-osteolysis, delayed closure of cranial suturs and joint contractures.1,2 Moreover they may develop metabolic derangement as insulin resistance, hypertriglyceridemia, and lipodystrophy.3, 4 It is shown that MAD is a genetically and phenotypically heterogeneous disorder.1 As of now, it has been reported in less than 25 families, most of which are Italian.5,6 Here we present a new patient from the north east of Iran with typical clinical and radiologic features of this syndrome.