The Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -

Abstract

Wolf-Hirschhorn syndrome (WHS) is one of multiple congenital anomaly/mental retardation (MCA/MR) syndromes and is caused by partial deletion of the short arm of chromosome 4, particularly in the Wolf-Hirschhorn syndrome critical region-1 (WHSCR1) and Wolf-Hirschhorn syndrome critical region-2 (WHSCR2), which are located in chromosome 4p16.3. Loss of these regions is indeed the cause of WHS, and the length of deletion regions was associated with the specific clinical phenotype. In many cases, WHS is caused by de novo deletion of the short arm of chromosome 4, including 4p16.3. A familial translocation was found in about 5-13% of WHS cases. The incidence of WHS was estimated from about 1 in 20,000 to 1 in 100,000. The key features of the WHS are, as follows: typical “Greek helmet” face (i.e., hypertelorism and frontal bossing, with prominent bridge of nose), microcephaly, cleft palate, severe psychomotor and growth retardation, low birth weight, diminished fetal activity, hypotonia, seizures and renal anomalies, which express various phenotypic features. Rarely, diaphragmatic hernia has also been reported. This report pertains to an autopsy case of WHS, of which chromosomal studies were verified by array comparative genomic hybridization (array-CGH).