Down syndrome, achondroplasia and tetralogy of Fallot.
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.
Dabir
Tabib
T
Clinical Genetics Department, Belfast City Hospital, Belfast, UK.
McCrossan
Brian A
BA
Sweeney
Louise
L
Magee
Alex
A
Sands
Andrew J
AJ
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
D017468:Receptors, Fibroblast Growth Factor