Wolf-Hirschhorn Syndrome (WHS), A Case Report and Review of Literature Submit Manuscript

Abstract

Background: Wolf-Hirschhorn Syndrome (WHS) is a congenital malformation syndrome characterized by growth deficiency and varying developmental delays based on genomic deletions and characteristic facies. The majority of WHS cases are caused by a deletion of 4p16.3 regions on chromosome 4, which includes the Wolf-Hirschhorn Syndrome Candidate genes (WHSC1 and WHSC2). WHSC1 protein is required to inhibit DNA damage by regulating the methylation of histones. The diagnosis of WHS is established by detection of a heterozygous deletion of the Wolf-Hirschhorn Syndrome Critical Region (WHSCR) with 4p16.3 at approximately 1.4-1.9 kb from the terminus. The WHSCR region is restricted to a 165-kb interval in the 4p16.3.

Wolf-Hirschhorn syndrome diagnosed in a precious IVF pregnancy: Ethical and therapeutic dilemma from an obstetrician's perspective

“…Although the reported incidence of WHS is estimated to be around 1:50,000 births, it is thought to remain undiagnosed in quite many. About 40-45% infants with WHS inherit a de novo simple deletion of 4p16.3 and other 45% have an unbalanced translocation with a combination of 4p deletion and a partial trisomy of a different chromosome arm (like chromosome 8) [2] . Heterozygous inversions on 4p16 and 8p23 were present in 12.5% and 2.5% were double-heterozygous.…”

“…Larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions [1] . Female fetuses are more commonly affected compared to males (2:1) [1,2] . Midline defects including brain, palate, heart and genitalia are most lethal.…”

A case report on Wolf-Hirschhorn syndrome

“…6 Different mechanisms have been reported to cause WHS, such as do novo deletions, familial translocations, and de novo translocations. 7 Nearly 35% of the patients die in 1 st year of life due to congenital heart disease. 8…”

Síndrome de Wolf-Hirschhorn

“…Fenotipicamente, manifesta-se por microcefalia e dismorfismo facial com hipertelorismo, ptose palpebral, glabela proeminente e nariz largo (fácies de capacete grego). [1][2][3][4] Outras alterações possíveis são estrabismo, proptose, catarata, coloboma, alterações da íris e das fendas palpebrais, nistagmo congénito, fenda lábio-palatina, micrognatia, implantação baixa das orelhas, com alterações dos pavilhões auriculares e fossetas pré-auriculares. [1][2][3] Esta síndrome associa-se a restrição do crescimento intrauterino e baixo peso de nascimento, má progressão ponderal, hipotonia e atraso do desenvolvimento psicomotor.…”

“…2,3 Dada a presença de várias malformações sugestivas, é geralmente diagnosticada no período neonatal precoce. 4 Apresenta-se uma criança do sexo feminino, com 21 meses de idade. Ecografias fetais com restrição de crescimento fetal, polihidrâmnios, síndrome polimalformativo e artéria umbilical única.…”