RT Journal Article SR Electronic T1 Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 831 OP 833 DO 10.1136/jmg.29.11.831 VO 29 IS 11 A1 Young, I D A1 Ruggins, N R A1 Somers, J M A1 Zuccollo, J M A1 Rutter, N YR 1992 UL http://jmg.bmj.com/content/29/11/831.abstract AB A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.