Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

D.E. Popescu; D. Marian; M. Zeleniuc; Ch. Samoila; V. Belengeanu

doi:10.2478/bjmg-2023-0006

.blurhash-client-img { display: none !important; }

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

Balkan Journal of Medical Genetics

Volume 26 (2023): Issue 1 (July 2023)

By: D.E. Popescu, D. Marian, M. Zeleniuc, Ch. Samoila and V. Belengeanu

Open Access

|Jul 2023

Abstract

Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.

References

Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mamm Chrom Newsl. 1961; 4(14): 14–16.
Search in Google Scholar Back to article
Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik. 1965; 1(5): 479–482.
Search in Google Scholar Back to article
Wolf H, Porsch R, Schroeter R, Baitsch H. Defizienz an den kurzen Arm eines Chromosoms nr. 4. Humangenetik. 1965; 1(5): 397–413.
Search in Google Scholar Back to article
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003; 72(3): 590–597.
Search in Google Scholar Back to article
South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. 2008; 16 (1):45–52.
Search in Google Scholar Back to article
Battaglia A, Carey JC, South ST, Wright TJ. Wolf Hirschhorn syndrome, in GeneReviews [Internet], R A Pagon, TD Bird, CR Dolan, K Stephens. Seattle University of Washington, Seattle, USA, 2010.
Search in Google Scholar Back to article
Maas NMC, van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridization (CGH). J Med Genet. 2008; 45(2): 71–80.
Search in Google Scholar Back to article
Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet. 1997; 6(2): 317–324.
Search in Google Scholar Back to article
Zollino M, Doronzio PN. Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. J. Hum. Genet. 2018; 63:859–861
Search in Google Scholar Back to article
Endele S, Fuhry M, Pak S-J, Zabel B, Winterpacht A: LETM1 – a novel gene encoding a putative EF-hand Ca²⁺-binding proteinflanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics. 1999; 60(2): 218–225.
Search in Google Scholar Back to article
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. On the nosology and pathogenesis of wolf-Hirschhorn syndrome: genotypephenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet.2008; 148C(4):257–69
Search in Google Scholar Back to article
Gua Y, James A. McNamara Jr. Mandibular Growth Changes and Cervical Vertebral Maturation, Angle Orthodontist. 2007; 77(6).
Search in Google Scholar Back to article
Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. Am J Med Genet C Semin Med Genet.2015; 169 (3):216–23.
Search in Google Scholar Back to article
Paradowska-Stolarz AM: Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. AdvClinExp Me.2014; 23:485–489.
Search in Google Scholar Back to article
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C: Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics.1999;103:830–836.
Search in Google Scholar Back to article
Wieczorek D. Wolf-Hirschhorn syndrome. Orphanetencyclopedia. September 2003: http://www.orpha.net/data/patho/GB/uk-WHS.
Search in Google Scholar Back to article
Battaglia A, Lortz A, Carey JC. Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals. Am J Med Genet A. 2021 Jun;185 (6):1794–1802.
Search in Google Scholar Back to article
Carey JC, Lortz A, Mendel A, Battaglia A. Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study. Am J Med Genet A. 2021; 185 (7):2065–2069.
Search in Google Scholar Back to article
Ogle R, Sillence DO, Merrick A, Ell J, Lo B, Robson L et al. The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec (4) chromosome. Am J Med Genet. 1996;65 (2):124–7.
Search in Google Scholar Back to article
Levaillant JM, Touboul C, Sinico M, Vergnaud A, Serero S, Druart L et al. Prenatal forhead edema in 4p-deletion: the “Greek warrior helmet” profile revisited. PrenatDiagn 2005;25:1150–1155.
Search in Google Scholar Back to article
Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F Prenata at al. Wolf-Hirschhorn (4P-) syndrome in adults. Genet Couns. 2001; 12 (1):35–48.
Search in Google Scholar Back to article
Martínez-Quintana E, Rodríguez-González F. Clinical features in adult patient with Wolf-Hirschhorn syndrome. Morphologie. 2014; 98 (321):86–9.
Search in Google Scholar Back to article
Roberts T, Stephen LX, Fieggen K, Beighton P. Wolf-Hirschhorn syndrome; oro-dental manifestations and management. J ClinPediatr Dent. 2009; 34 (2):173–6.
Search in Google Scholar Back to article
Dellavia C, Raiteri S, Ottolina P, Pregliasco F. Oral features in five adult patients with Wolf-Hirschhorn syndrome. Minerva Stomatol. 2011; 60 (7–8):391–402.
Search in Google Scholar Back to article
Limeres J, Serrano C, De Nova JM, Silvestre-Rangil J, Machuca G, Maura I, Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J Clin Med. 2020; 9 (11):3556.
Search in Google Scholar Back to article
Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I. MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res. 2003; 82 (12):1013–7.
Search in Google Scholar Back to article
Paradowska-Stolarz A. MSX1 gene in the etiology orofacial deformities. Postepy Hig Med Dosw (Online). 2015; 69: 1499–504.
Search in Google Scholar Back to article
Gavril EC, Luca AC, Curpan AS, Popescu R, Resmerita I, Panzaru MC. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children (Basel). 2021 Aug 30;8(9):751
Search in Google Scholar Back to article
Fisch GS, Battaglia A, Parrini B, Youngblom J, Simensen R. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet C Semin Med Genet.2008; 148 C (4):252–6.
Search in Google Scholar Back to article
Marshall AT. Impact of chromosome 4p-syndrome on communication and expressive language skills: a preliminary investigation. Lang Speech Hear Serv Sch. 2010; 41 (3):265–76.
Search in Google Scholar Back to article
Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, Battaglia A. Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile. Am J Intellect Dev Disabil. 2012; 117 (2):167–79.
Search in Google Scholar Back to article
Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet.2010 Nov 15;154 C (4):417–26.
Search in Google Scholar Back to article
Decipher database http://decipher.sanger.ac.uk
Search in Google Scholar Back to article
Judge CG, Garson OM, Pitt DB, Sutherland GR. A girl with Wolf-Hirschorn syndrome and mosaicism 46, XX-46, XX, 4p-. J Ment Defic Res. 1974; 18 (0):79–85.
Search in Google Scholar Back to article
Syrrou M, Borghgraef M, Fryns JP. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del (4) (p16)/der (4)(qter-q31.3::pter-qter). Am J Med Genet. 2001; 104 (3):199–203.
Search in Google Scholar Back to article
Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S. Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014; 164 A (3):597–609
Search in Google Scholar Back to article
Sukarova-Angelovska E, Kocova M, Sabolich V, Palcevska S, Angelkova N. Phenotypic variations in wolf-hirschorn syndrome. Balkan J Med Genet 2014; 17: 23–30.
Search in Google Scholar Back to article
Jannicke H Andresen, Ola Didrik Saugstad, 50 Years Ago in The Journal of Pediatrics: Wolf-Hirschorn Versus Cri-du-Chat Syndrome. J Pediatr. 2020; 226:95.
Search in Google Scholar Back to article
Kurtovic-Kozaric A, Mehinovic L, Stomornjak-Vukadin M, Kurtovic-Basic I, Catibusic F, Kozaric M et al, Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: Single center experience in a developing country. Bosn J Basic Med Sci. 2016; 16(2): 121–125.
Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.2478/bjmg-2023-0006 | Journal eISSN: 2199-5761

Journal RSS Feed

Language: English

Page range: 75 - 82

Published on: Jul 31, 2023

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Fluorescent in situ hybridization (FISH),

Phenotype,

Severe delay speech,

Wolf-Hirschhorn syndrome (WHS)

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2023 D.E. Popescu, D. Marian, M. Zeleniuc, Ch. Samoila, V. Belengeanu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 26 (2023): Issue 1 (July 2023)