AUTOSOMAL RECESSIVE OMODYSPLASIA - REPORT OF 3 ADDITIONAL CASES

Three new cases of autosomal recessive omodysplasia (ARO) are reported . One shows a new finding of craniosynostosis. One is related to a pat ient previously reported in 1991. Another is the first report of a pat ient living in Australia. The clinical and radiological findings furth er consolidate the condition as a distinct and readily diagnosable aut osomal 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-l ike femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type).