Acromesomelic Dysplasia

Acro-mesomelic dwarfism involves greater biometric reductive involvement of acro-mesomelic structures than rhizomelic structures. The two main syndromes in this group are very different from each other. The Ellis Van Creveld syndrome can be easily suspected ultrasound due to the numerous associated abnormalities and especially the polydactyly that can be detected as early as the second trimester. Campailla Martinelli syndrome is difficult to recognize sonographically, so dwarfism with greater mesomelic involvement will be diagnosed and only prenatal genetic investigation can determine the syndrome.