VACTERL-H SYNDROME – A CASE REPORT

The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. VACTERL association is an association of birth defects that affects multiple parts of the body. It includes vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The diagnosis of VACTERL-H Syndrome is majorly based upon the complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often varies greatly. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive. Hence early diagnosis and early interventions are needed to prevent morbidity and mortality. Key words: VACTERL-H syndrome, congenital malformations, clinical examinations

Sacrococcygeal Teratoma in a Singleton Male Instance of Cornelia de Lange Syndrome: A Case Report

Sacrococcygeal teratoma, sirenomelia, VATER association, anencephaly and holoprocencephaly are occasionally observed in patients with Cornelia de Lange syndrome (CdLS; OMIM 122470). Here, I present an exceptional case of a non-twin, singleton newborn with CdLs who also had a sacrococcygeal teratoma.

Sacrococcygeal Teratoma in a Singleton Male Instance of Cornelia de Lange Syndrome: A Case Report

Sacrococcygeal teratoma, sirenomelia, VATER association, anencephaly and holoprocencephaly are occasionally observed in patients with Cornelia de Lange syndrome (CdLS; OMIM 122470). Here, I present an exceptional case of a non-twin, singleton newborn with CdLs who also had a sacrococcygeal teratoma.

Vestibular Derangement and Motion Intolerance in VATER Association

VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported.