Autosomal recessive omodysplasia: report of three additional cases

Abstract

Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in l991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type).