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: I D Young, N R Ruggins, J M Somers, J M Zuccollo, N Rutter
• Journal: Journal of medical genetics (J Med Genet) Vol. 29 Issue 11 Pg. 831-3 (Nov 1992) ISSN: 0022-2593 [Print] England
• PMID: 1453438 (Publication Type: Case Reports, Journal Article)

Topics

• Achondroplasia (congenital, genetics)
• Dwarfism (genetics)
• Heterozygote
• Humans
• Infant, Newborn
• Male
• Osteochondrodysplasias (congenital, genetics)
• Respiratory Distress Syndrome, Newborn (genetics)