title: Down syndrome, achondroplasia and tetralogy of Fallot.
abstract: This paper describes a female infant with achondroplasia, Down syndrome and tetralogy of Fallot. Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. The clinical course was complicated by pulmonary hypoplasia and subsequent intractable respiratory failure secondary to the combination of congenital conditions, which resulted in the patient's death at 5 months.
authors.affiliation: Clinical Genetics Department, Belfast City Hospital, Belfast, UK.
authors.forename: Tabib
authors.initials: T
authors.lastname: Dabir
authors.forename: Brian A
authors.initials: BA
authors.lastname: McCrossan
authors.forename: Louise
authors.initials: L
authors.lastname: Sweeney
authors.forename: Alex
authors.initials: A
authors.lastname: Magee
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Sands
mesh_terms: D000130:Achondroplasia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009154:Mutation / Q000235:genetics; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology; D013771:Tetralogy of Fallot / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor