title: Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, City Hospital, Nottingham.
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: N R
authors.initials: NR
authors.lastname: Ruggins
authors.forename: J M
authors.initials: JM
authors.lastname: Somers
authors.forename: J M
authors.initials: JM
authors.lastname: Zuccollo
authors.forename: N
authors.initials: N
authors.lastname: Rutter
mesh_terms: D000130:Achondroplasia / Q000151:congenital / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics