IJSR - International Journal of Scientific Research

Sandeep Kumar; Vikrant Ujlayan; Jay Kishore Singh; Chetnanand Jha

Volume : VIII, Issue : VIII, August - 2019

Pearl syndrome with jacob syndrome : A rare association

Sandeep Kumar, Vikrant Ujlayan, Jay Kishore Singh, Chetnanand Jha

Abstract :

The association of bilateral anotia or microtia with cardiac malformations is well known. One such association was reported by Pearl comprising of facial nerve palsy, anotia and congenital heart disease. It has been reported as a result of teratogenic effect of retinoic acid, thalidomide or as a variant of goldenhar syndrome. Jacob syndrome ( 47, XYY) is the second most common chromosomal disorder in males after klinefelters syndrome characterized by the presence of an extra Y chromosome. We present a case of unusual association of pearl syndrome with Jacob syndrome in a male neonate. To our best knowledge, till date no case with these comorbid conditions has been reported in English literature.