FEATURES OF THE WOLF-HIRSCHHORN SYNDROME (WHS) FROM INFANT TO YOUNG TEENAGER
Popescu D.E., Marian D., Zeleniuc M., Samoila Ch., Belengeanu V.
*Corresponding Author: Corresponding Author: Marian Diana, DMD, PhD, Ass. Prof, Department of Operative Dentistry, Faculty of Dental Medicine, “Vasile Goldiş” Western University of Arad, Liviu Rebreanu St, no.86, 310414 Arad, Romania; tel.: 0040744187899, e-mail: marian.diana@uvvg.ro
page: 75
|
|
REFERENCES
1. 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.
2. 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.
3. Wolf H, Porsch R, Schroeter R, Baitsch H. Defizienz
an den kurzen Arm eines Chromosoms nr. 4. Humangenetik.
1965; 1(5): 397-413.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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
10. 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.
11. 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
12. Gua Y, James A. McNamara Jr. Mandibular Growth
Changes and Cervical Vertebral Maturation, Angle
Orthodontist. 2007; 77(6).
13. 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.
14. Paradowska-StolarzAM : Wolf-Hirschhorn syndrome
(WHS) - literature review on the features of the syndrome.
AdvClinExp Me.2014; 23:485-489.
15. 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.
16. Wieczorek D. Wolf-Hirschhorn syndrome. Orphanetencyclopedia.
September 2003: http://www.
orpha.net/data/patho/GB/uk-WHS.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. Martínez-Quintana E, Rodríguez-González F. Clinical
features in adult patient with Wolf-Hirschhorn
syndrome. Morphologie. 2014; 98 (321):86-9.
23. Roberts T, Stephen LX, Fieggen K, Beighton P. Wolf-
Hirschhorn syndrome; oro-dental manifestations and
management. J ClinPediatr Dent. 2009; 34 (2):173-6.
24. 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.
25. 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.
26. 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.
27. Paradowska-Stolarz A. MSX1 gene in the etiology
orofacial deformities. Postepy Hig Med Dosw (Online).
2015; 69: 1499-504.
28. 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
29. 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.
30. 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.
31. 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.
32. 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.
33. Decipher database http://decipher.sanger.ac.uk
34. 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.
35. 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.
36. 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
37. 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.
38. Jannicke H Andresen , Ola Didrik Saugstad, 50 Years
Ago in TheJournalofPediatrics: Wolf-Hirschorn Versus
Cri-du-Chat Syndrome. J Pediatr. 2020; 226:95.
39. 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.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
