Research & Literature

Uncommon oral cleft in Wolf-Hirschhorn syndrome.

Aquino SN, Machado RA, Paranaíba LM, et al.

Brazilian dental journal 2015; (26(2)):203-6.

Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.

Ahmed M, Ura K, Streit A

Disease models & mechanisms 2015; (8(9)):1027-35 doi:10.1242/dmm.019547.

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Ho KS, South ST, Lortz A, et al.

Journal of medical genetics 2016; (53(4)):256-63 doi:10.1136/jmedgenet-2015-103626.

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.

Yang WX, Pan H, Li L, et al.

Chinese medical journal 2016; (129(6)):672-8 doi:10.4103/0366-6999.177996.

[The Wolf-Hirschhorn Syndrome].

Friebe-Hoffmann U, Reister F, Gaspar H, et al.

Zeitschrift fur Geburtshilfe und Neonatologie 2016; (220(5)):195-199 doi:10.1055/s-0042-107084.

MSX1 gene in the etiology orofacial deformities.

Paradowska-Stolarz A

Postepy higieny i medycyny doswiadczalnej (Online) 2015; (69()):1499-504.

Growth profiles of 34 patients with Wolf-Hirschhorn syndrome.

Shimojima K, Yamamoto T

Journal of pediatric genetics 2012; (1(1)):33-7 doi:10.3233/PGE-2012-007.

Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

Gamble JF, Kurian DJ, Udani AG, Greene NH

Case reports in pediatrics 2016; (2016()):7070125 doi:10.1155/2016/7070125.

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.

Bragagnolo S, Colovati ME, Guilherme RS, et al.

Cytogenetic and genome research 2016; (150(1)):17-22 doi:10.1159/000452237.

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review].

Blanco-Lago R, Malaga-Dieguez I, Granizo-Martinez JJ, et al.

Revista de neurologia 2017; (64(9)):393-400.

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Campos-Sanchez E, Deleyto-Seldas N, Dominguez V, et al.

Cell reports 2017; (19(8)):1586-1601 doi:10.1016/j.celrep.2017.04.069.

A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome.

Nag HE, Bergsaker DK, Hunn BS, et al.

European journal of medical genetics 2017; (60(11)):610-617 doi:10.1016/j.ejmg.2017.08.013.

Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report.

Tsukamoto M, Yamanaka H, Yokoyama T

Journal of dental anesthesia and pain medicine 2017; (17(3)):231-233 doi:10.17245/jdapm.2017.17.3.231.

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Gatto A, Ferrara P, Leoni C, et al.

American journal of medical genetics. Part A 2018; (176(2)):409-414 doi:10.1002/ajmg.a.38554.

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Ali MH, Azar NF, Aakalu V, et al.

Ophthalmic genetics 2018; (39(2)):271-274 doi:10.1080/13816810.2017.1408850.

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.

Ho KS, Markham LM, Twede H, et al.

Epilepsy & behavior : E&B 2018; (81()):55-61 doi:10.1016/j.yebeh.2017.12.008.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

Zhen L, Fan SS, Huang LY, et al.

European journal of obstetrics, gynecology, and reproductive biology 2018; (225()):19-21 doi:10.1016/j.ejogrb.2018.03.047.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Derar N, Al-Hassnan ZN, Al-Owain M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(1)):185-188 doi:10.1038/s41436-018-0014-8.

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Boczek NJ, Lahner CA, Nguyen TM, et al.

American journal of medical genetics. Part A 2018; (176(12)):2798-2802 doi:10.1002/ajmg.a.40498.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Nevado J, Ho KS, Zollino M, et al.

American journal of medical genetics. Part A 2020; (182(1)):257-267 doi:10.1002/ajmg.a.61406.

Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report.

Hong YM, Cho DH, Kim JK

Medicine 2019; (98(50)):e18268 doi:10.1097/MD.0000000000018268.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Mozer Joaquim T, Paiva Grangeiro CH, Gaona de Oliveira Gennaro F, et al.

Molecular syndromology 2020; (10(5)):264-271 doi:10.1159/000501923.

Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies.

Buddhdev PK, Sabir A, Kokkinakis M, et al.

American journal of medical genetics. Part A 2020; (182(6)):1449-1453 doi:10.1002/ajmg.a.61573.

Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly.

Chen CP, Wang LK, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2020; (59(3)):425-431 doi:10.1016/j.tjog.2020.03.016.

Wolf-Hirschhorn syndrome: A case series from India.

Chaudhry C, Kaur A, Panigrahi I, Kaur A

American journal of medical genetics. Part A 2020; (182(12)):3048-3051 doi:10.1002/ajmg.a.61856.

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

Berrocoso S, Amayra I, Lázaro E, et al.

Orphanet journal of rare diseases 2020; (15(1)):293 doi:10.1186/s13023-020-01476-8.

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

Limeres J, Serrano C, De Nova JM, et al.

Journal of clinical medicine 2020; (9(11)) doi:10.3390/jcm9113556.

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

Mekkawy MK, Kamel AK, Thomas MM, et al.

Molecular genetics & genomic medicine 2021; (9(2)):e1546 doi:10.1002/mgg3.1546.

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.

Rjiba K, Ayech H, Kraiem O, et al.

Molecular cytogenetics 2021; (14(1)):12 doi:10.1186/s13039-021-00531-8.

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Battaglia A, Lortz A, Carey JC

American journal of medical genetics. Part A 2021; (185(6)):1794-1802 doi:10.1002/ajmg.a.62176.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Zanoni P, Steindl K, Sengupta D, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(8)):1474-1483 doi:10.1038/s41436-021-01158-1.

[Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome].

Wang Y, Chen X, Xue H, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(8)):735-739 doi:10.3760/cma.j.cn511374-20200319-00183.

A practical approach to dental care for patients with Wolf-Hirschhorn syndrome.

Serrano Martín C, Fernández Feijoo J, García Mato E, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2022; (42(2)):137-142 doi:10.1111/scd.12644.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

Gavril EC, Luca AC, Curpan AS, et al.

Children (Basel, Switzerland) 2021; (8(9)) doi:10.3390/children8090751.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Wiel LC, Bruno I, Barbi E, Sirchia F

Italian journal of pediatrics 2022; (48(1)):72 doi:10.1186/s13052-022-01267-w.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Kaiyrzhanov R, Mohammed SEM, Maroofian R, et al.

American journal of human genetics 2022; (109(9)):1692-1712 doi:10.1016/j.ajhg.2022.07.007.

Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.

Paprocka J, Kaminiów K, Yetkin O, et al.

Seizure 2024; (116()):14-23 doi:10.1016/j.seizure.2022.12.001.

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.

Tang F, Zeng Y, Wang L, et al.

Molecular genetics & genomic medicine 2023; (11(6)):e2155 doi:10.1002/mgg3.2155.

Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome.

Horiguchi A, Koichihara R, Kikuchi K, et al.

Neuropediatrics 2023; (54(5)):339-343 doi:10.1055/a-2077-1988.

Incidence of hip problems in developmental central hypotonia: A scoping review.

Livingstone RW, Paleg GS, Shrader MW, et al.

Developmental medicine and child neurology 2025; (67(3)):307-321 doi:10.1111/dmcn.16124.

Successful Anesthetic Management of a Pediatric Patient With Wolf-Hirschhorn Syndrome Undergoing Strabismus Surgery: A Case Report.

Gholmieh L, El Assaad R

Cureus 2024; (16(9)):e70099 doi:10.7759/cureus.70099.

Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome.

Bel-Fenellós C, Biencinto-López C, Orio-Aparicio C, et al.

Research in developmental disabilities 2025; (160()):104974 doi:10.1016/j.ridd.2025.104974.

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Calhoun ARUL, Lortz A, Casper TC, Carey JC

American journal of medical genetics. Part A 2025; (197(8)):e64075 doi:10.1002/ajmg.a.64075.

Clinical features, behaviour and language in Wolf-Hirschhorn syndrome.

Lamônica D, Rosa KG, Ribeiro E, et al.

BMJ case reports 2025; (18(5)) doi:10.1136/bcr-2024-264591.

Reconsidering Social-Behavioral Phenotypes in Wolf-Hirschhorn Syndrome: Presentation of Two Cases Diagnosed with Autism Spectrum Disorder.

Glad DM, Vogt EM, Jones KL, Miller LE

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2025; (40(7)):1288-1300 doi:10.1093/arclin/acaf040.

Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome.

Nevado J, Blanco-Lago R, Bel-Fenellós C, et al.

Genes 2025; (16(7)) doi:10.3390/genes16070820.

Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020.

Quarrell OWJ, Obaro E, Thompson A, et al.

Clinical dysmorphology 2026; (35(1)):28-31 doi:10.1097/MCD.0000000000000542.

Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature.

Blanco-Lago R, Málaga I, Tenorio-Castaño JA, et al.

Journal of clinical medicine 2025; (14(22)) doi:10.3390/jcm14228044.

Acute airway obstruction in a paediatric patient with Wolf-Hirschhorn syndrome requiring emergency tracheostomy.

Kannan J, Sharma H, Goyal S

BMJ case reports 2026; (19(4)) doi:10.1136/bcr-2025-269586.