A Case of Wolf-Hirschhorn Syndrome with del (4) (p15.2) / 대한임상병리학회지

ABSTRACT

Wolf-Hirschhorn syndrome (WHS) is a congenital anomaly associated with partial deletion of distal short arm of chromosome 4, characterized by distinct facial anomalies ("Greek-Helmet"), mental and growth retardation and midline defects. The deletion of 2.2Mb area of 4p16.3 is thought to be the critical for WHS. It is reported that the sizes of 4p deletions are variable and the clinical findings are different from classic WHS according to the deleted portion. Recently proximal interstitial deletions have been infrequently reported. On fetal ultrasonography, a fetus of this case was found to have intrauterine growth retardation and multiple somatic anomalies including cleft palate, cleft lip, club foot, and hypoplastic thoracic cage with cardiomegaly, hypoplasia of right kidney and small stomach. At 36th week of gestation, the female baby was born by normal vaginal delivery, and her body weight was only 2.1kg. In spite of vigorous resuscitative measures, she died of respiratory failure on the second day of life. Karyotype was 46,XX,del (4) (p15.2). It is supposed that the size of deleted 4p in patients with WHS doesn't have substantial influence on the phenotype of the disease if the critical region in 4p16.3 is also deleted.