Wolf–Hirschhorn syndrome: A case series from India

Abstract

Wolf-Hirschhorn syndrome (WHS) (OMIM#194190) is a contiguous gene syndrome with estimated prevalence being around 1 in 50,000 births. The syndrome is caused by deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, or developmental delay and seizures. We describe four patients, each highlighting a different aspect of this syndrome. One patient was detected by karyotype where a large deletion was identified. Three other children were diagnosed after targeted multiplex ligation-dependent probe amplification (MLPA) where heterozygous deletion of the probes on chromosome 4p16.3 were identified. One of these children additionally had heterozygous duplication of the probe for chromosome band 5p13.3. Less than half of the patients can be identified by conventional cytogenetics and molecular cytogenetic testing should be offered for diagnosis. Karyotyping of the parents should always be offered in a child with WHS.

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

“…In this study, the prevalence of downturned corners of the mouth (1 of every 3 patients) was lower than that reported in previous publications, given that a number of authors it a finding that forms part of the facial-phenotype characteristic of WHS [8,17]. This discrepancy can be affected by various factors such as phenotype severity, observer subjectivity, and the definition of the finding, which in some cases was identified as "distinct mouth" [7,21]. Downturned corners of the mouth are also a frequent finding among patients with chromosome 9q subtelomere deletion syndrome (9qSTDS), one of the most common clinically recognizable syndromes of subtelomere deletions.…”