VATER--tibia aplasia association: report on two patients.
We report two patients with oesophageal atresia, tracheo-oesophageal fistula and unilateral tibial aplasia. The karyotype in both patients was normal and both cases were sporadic. The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association.
Spruijt
Liesbeth
L
Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium.
Devriendt
Koen
K
Offermans
Jos
J
Bulstra
Sjoerd
S
Schrander-Stumpel
Connie
C
D000015:Abnormalities, Multiple / Q000473:pathology*; D004423:Ear / Q000002:abnormalities; D004933:Esophageal Atresia / Q000473:pathology*; D019066:Facies; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D063173:Retrognathia / Q000473:pathology; D013977:Tibia / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000473:pathology*