VACTERL association: a new case with biotinidase deficiency and annular pancreas.
VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported.
Department of Pediatrics, Zeynep Kamil Maternity and Childrens' Diseases Training and Research State Hospital, Uskudar, Istanbul, Turkey.
Rabia Gonul
RG
Sezer
Gökhan
G
Aydemir
Abdulkadir
A
Bozaykut
Cem
C
Paketci
Secil
S
Aydinoz
D001003:Anal Canal / Q000002:abnormalities; D028921:Biotinidase Deficiency / Q000150:complications*; D004947:Esophagus / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000150:complications*; D008297:Male; D010179:Pancreas / Q000002:abnormalities; D010182:Pancreatic Diseases / Q000150:complications*; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities