Congenital blepharoptosis co-occurring with VATER association.
VATER association is the tendency for 5 specific anomalies (vertebral and vascular anomalies [V], anal atresia [A], esophageal atresia and/or tracheoesophageal fistula [TE], and radial and renal anomalies [R]) to occur together in one individual. Recently, malformations and abnormalities, other than those of diagnostic criteria of VATER association, have been considered significant for clarifying the nature of VATER association and for establishing guidelines for the treatment of infants with VATER association because they are supposed to be determinants of prognosis. Malformations associated with the eye have, however, scarcely been highlighted in VATER association, although several occurrences have been reported. The authors describe the first case of congenital blepharoptosis co-occurring in a patient with VATER association. The co-occurrence of several malformations in the ipsilateral face and hand of the patient were indicative of their arising from the congeneric pathogenesis. Surgical repair of the blepharoptosis was carried out by eyebrow suspension with fascia lata when the patient was 5 years old; a favorable outcome was achieved in both function and aesthetics.
Ichinose
Akihiro
A
Department of Plastic Surgery, Kobe University, Graduate School of Medicine, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan. ichise@med.kobe-u.ac.jp
Nomura
Koji
K
Murakami
Hideki
H
Tahara
Shinya
S
D001006:Anus, Imperforate / Q000150:complications / Q000175:diagnosis; D019882:Blepharoplasty; D001763:Blepharoptosis / Q000150:complications* / Q000151:congenital* / Q000601:surgery; D002675:Child, Preschool; D004947:Esophagus / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008297:Male; D011884:Radius / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities