VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.
Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis.
Corsello
G
G
Cattedra di Patologia Neonatale, Università di Palermo, Italy.
Maresi
E
E
Corrao
A M
AM
Dimita
U
U
Lo Cascio
M
M
Cammarata
M
M
Giuffrè
L
L
D004933:Esophageal Atresia / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007829:Laryngostenosis / Q000235:genetics*; D008168:Lung / Q000002:abnormalities; D008297:Male; D010641:Phenotype; D013577:Syndrome; D009626:Terminology as Topic; D014138:Tracheoesophageal Fistula / Q000235:genetics*