The First Case Report on Neonatal Familial Oculocutaneous Albinism Associated With VACTERL Syndrome

Albinism refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin and hair. Albinism doesnt occur together with other anomalies with the exception of a case associated with microcephaly and digital hypoplasia. VACTERL is a syndrome consisting of multiple anomalies such as vertebral anomalies, anal atresia, cardiac anomaly, tracheoesophageal fistula, renal and limb abnormalities. Incidence of VACTERL is 1.6 in 10000 live borns and occurs sporadically. Occurrence of albinism and VACTERL together has not been reported yet. Case Report: A 3 day-old term neonate with oculocutaneous albinism phenotype associated with VACTERL syndrome underwent surgery for correction of his anomalies, but because of post operative sepsis and its complications died after few days. Albinism includes a group of clinical conditions that occurs sporadically without associated anomalies. This is the first report of association between albinism and VACTERL syndrome.