title: Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement?
abstract: Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.
authors.affiliation: Department of Clinical Genetics, Leicester Royal Infirmary, UK.
authors.forename: S M
authors.initials: SM
authors.lastname: Price
authors.forename: A C
authors.initials: AC
authors.lastname: Berry
authors.forename: F L
authors.initials: FL
authors.lastname: Raymond
authors.forename: P
authors.initials: P
authors.lastname: Turnpenny
authors.forename: I D
authors.initials: ID
authors.lastname: Young
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000150:complications; D001006:Anus, Imperforate / Q000150:complications*; D001132:Arm / Q000002:abnormalities*; D002648:Child; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D004480:Ectromelia / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D007830:Larynx / Q000002:abnormalities; D008297:Male; D014469:Umbilical Arteries / Q000002:abnormalities