New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.
D000293:Adolescent; D001284:Atrophy; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D001862:Bone Resorption; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000175:diagnosis; D003937:Diagnosis, Differential; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging; D008297:Male; D008336:Mandibular Diseases / Q000000981:diagnostic imaging; D010014:Osteolysis / Q000000981:diagnostic imaging; D010022:Osteopetrosis / Q000175:diagnosis; D011859:Radiography; D012871:Skin Diseases / Q000150:complications; D013577:Syndrome