{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T10:06:31Z","timestamp":1778493991698,"version":"3.51.4"},"reference-count":23,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Wolf\u2013Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion\u2019 size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)\u2014combined kits\u2014as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis\u2014CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and\/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.<\/jats:p>","DOI":"10.3390\/children8090751","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T11:01:37Z","timestamp":1630321297000},"page":"751","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review"],"prefix":"10.3390","volume":"8","author":[{"given":"Eva-Cristiana","family":"Gavril","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5676-0864","authenticated-orcid":false,"given":"Alina Costina","family":"Luca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"\u201cSt. Mary\u201d Children\u2019s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3880-4296","authenticated-orcid":false,"given":"Alexandrina-Stefania","family":"Curpan","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Biology, \u201cAlexandru Ioan Cuza\u201d University of Iasi, Bd. Carol I, 20A, 700505 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2183-0690","authenticated-orcid":false,"given":"Roxana","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"\u201cSt. Mary\u201d Children\u2019s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7518-4049","authenticated-orcid":false,"given":"Irina","family":"Resmerita","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6762-4067","authenticated-orcid":false,"given":"Monica Cristina","family":"Panzaru","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"\u201cSt. Mary\u201d Children\u2019s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lacramioara Ionela","family":"Butnariu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"\u201cSt. Mary\u201d Children\u2019s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihaela","family":"Gramescu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Rusu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"\u201cSt. Mary\u201d Children\u2019s Hospital, Vasile Lupu Street, No 62-64, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"485","DOI":"10.17219\/acem\/24111","article-title":"Wolf-Hirschhorn Syndrome (WHS)\u2014Literature review on the features of the syndrome","volume":"23","year":"2014","journal-title":"Adv. Clin. Exp. 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