Hemifacial Microsomia in a Patient with Klinefelter Syndrome

Abstract

Chicago, Illinoz'r 60680 A patient with 47, XXY karyotype, Klinefelter Syndrome, and hemz'facz'al mz'crosomia (unilateral microtia and mandibular hypoplasia) is described. In view of the fact that this is the second reported patient with hemifacial microsomia and a sex chromosomalabnormalz'ty, the relationship of these two findings is discussed. Appropriate diagnostic work-up of the patient with hernifacial microsomia is reviewed. Case Report A male infant weighing seven pounds, four ounces, was born, following an uncomplicated pregnancy, to a 37-year—old GVI PIV Abl mother. Although a deformity of the left ear and hypoplasia of the left side of the face were noted at birth, the parents did not seek med— ical help. The infant was initially cared for by his mother and subsequently was adopted by a maternal aunt, who stated that his early growth and development were normal. The patient was first seen at the University of Illinois Pediatric Clinic at the age of 11 years for evaluation ofhis ear deformity. Physical examination at that time revealed a well built, well nourished child with a small de— formed left pinna, atresia of the auditory canal, facial asymmetry, hearing loss on the left, and bifld uvula. The penis was small, and the testes were palpated in the inguinal canals.