title: Familial occurrence of the VATER/VACTERL association.
abstract: The acronym VATER/VACTERL association is used to describe the non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We report a familial case of VATER/VACTERL association in which both the index case and her maternal uncle displayed four major component features of the disorder. A systematic literature search identified 12 previously described familial cases. However, on comparison, both members fulfilled the diagnostic criteria for VATER/VACTERL association only in one instance, and ours is the second such report. Although, a SNP array-based analysis identified no causal genomic alteration, the findings in the present family suggest that genetic factors are implicated in the development of the disorder.
authors.affiliation: Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
authors.forename: Alina
authors.initials: A
authors.lastname: Hilger
authors.forename: Charlotte
authors.initials: C
authors.lastname: Schramm
authors.forename: Markus
authors.initials: M
authors.lastname: Draaken
authors.forename: Sadaf S
authors.initials: SS
authors.lastname: Mughal
authors.forename: Gabriel
authors.initials: G
authors.lastname: Dworschak
authors.forename: Enrika
authors.initials: E
authors.lastname: Bartels
authors.forename: Per
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities; D001006:Anus, Imperforate / Q000175:diagnosis* / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011884:Radius / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities