Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Abstract

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and HerzegovinaWolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.

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“…It also included children who did not fit neatly into a simple classification. Not only were there more children in the “miscellaneous” group in this report than three other studies, 15 16 34 we have shown a striking increase over time. In our earlier report, 7 70.8% received PVZ for prematurity, but in the whole period (2005–2017) this fell to 63.3%.…”

“…This is likely due to an increase in the “miscellaneous” group from 4.4% (2005/2006) to 22.5% (2016/2017) and may be related to an increase in the number of children seen as vulnerable by their physicians, even if they did not have primary indications. 23 The prominence of the “miscellaneous” group sharply contrasts with reports from Bosnia and Herzegovina 15 and Germany 16 where the “miscellaneous” group comprised 2.2 and 5% of the population, respectively. There is no clear evidence to explain this difference, but we speculate the differences may relate to the degree governments are willing to accept physician advice on determining priorities and assessing evidence.…”

“…These three groups feature in national RSV prophylaxis guidelines from pediatric societies, such as the United States, 31 Canada, 6 Italy, 32 , and Saudi Arabia. 33 These three high risk groups were also prominent in the reports from the United States, 34 Bosnia, and Herzegovina 15 and from Germany. 16 However, the report from Bosnia and Herzegovina differed from ours and the German report in that HSCHD (34.1%) was almost as common an indication as prematurity (49.2%).…”

“…Heljic et al reported on 589 infants given PVZ for a range of indications in Bosnia and Herzegovina in the RSV seasons in 2008 to 2014. 15 In the German 16 ( n = 12,729; 2009–2016), Russian 27 ( n = 3200; 2010–2014), and Polish 28 ( n = 3780; 2008–2014) registries, PVZ was administered for primary indications in the majority.…”

“…4 5 Several countries have reported on the use of PVZ for miscellaneous conditions in addition to the primary indications with some focused on specific diagnostic groups. 11 12 13 14 15 16 17 18 Few studies have reported on overall PVZ use for both primary and a large group of miscellaneous conditions. 19 20…”