Wolf-Hirschhorn syndrome

A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

Total: 24

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PMID (PMCID)
29199884 (5823738)	MIXED_SAMPLE	Infant, Newborn
	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, Chau FY, Abbasian J, Setabutr P, Maumenee IH. Ophthalmic Genet. 2018;39(2):271-274.
	Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss.
30345613	OTHER
	Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
	Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Am J Med Genet A. 2018;176(12):2798-2802.
	Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures.
30244530	OTHER
	Small 4p16.3 deletions: Three additional patients and review of the literature.
	Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Am J Med Genet A. 2018;176(11):2501-2508.
	Wolf-Hirschhorn syndrome is a well-defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and postnatal growth retardation, and seizures.
28266898	FEMALE	Infant
	Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.
	Rutter S, Morotti RA, Peterec S, Gallagher PG. Fetal Pediatr Pathol. 2017;36(3):256-262.
	Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures.
28281478 (5363120)	OTHER
	Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome.
	Zorron R, Cunha SH, Barreto MC, Phillips HN. J Minim Access Surg. 2017;13(2):135-138.
	Wolf-Hirschhorn syndrome is a rare genetic condition characterized by typical facial appearance, growth delay, psychomotor retardation and seizures, with a mosaic of other abnormalities reported in the literature.
27994945 (5161362)	OTHER
	Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome.
	Go H, Haneda K, Maeda H, Ogasawara K, Imamura T, Momoi N, Hosoya M. AJP Rep. 2016;6(4):e427-e429.
	Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome.
26797656	FEMALE	Infant
	Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide.
	Itakura A, Saito Y, Nishimura Y, Okazaki T, Ohno K, Sejima H, Yamamoto T, Maegaki Y. Brain Dev. 2016;38(7):658-62.
	Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide.
26797656	FEMALE	Infant
	Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide.
	Itakura A, Saito Y, Nishimura Y, Okazaki T, Ohno K, Sejima H, Yamamoto T, Maegaki Y. Brain Dev. 2016;38(7):658-62.
	This is the first case of Wolf-Hirschhorn syndrome complicated by epilepsy with migrating partial seizures.
27504263 (4969236)	OTHER
	Wolf-Hirschhorn (4p-) syndrome with West syndrome.
	Motoi H, Okanishi T, Kanai S, Yokota T, Yamazoe T, Nishimura M, Fujimoto A, Yamamoto T, Enoki H. Epilepsy Behav Case Rep. 2016;6:39-41.
	Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures.
27504263 (4969236)	OTHER
	Wolf-Hirschhorn (4p-) syndrome with West syndrome.
	Motoi H, Okanishi T, Kanai S, Yokota T, Yamazoe T, Nishimura M, Fujimoto A, Yamamoto T, Enoki H. Epilepsy Behav Case Rep. 2016;6:39-41.
	Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures.
27203859	OTHER
	[The Wolf-Hirschhorn Syndrome].
	Friebe-Hoffmann U, Reister F, Gaspar H, Hummler H, Lindner W, Lato K. Z Geburtshilfe Neonatol. 2016;220(5):195-199.
	Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4.
23637096	MALE
	109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
	Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T. Am J Med Genet A. 2013;161A(6):1465-9.
	Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with growth retardation, developmental disabilities, epileptic seizures, and distinct facial features resulting from a deletion of the short arm of chromosome 4.
22639003	MALE	Infant, Newborn
	A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.
	von Elten K, Sawyer T, Lentz-Kapua S, Kanis A, Studer M. Pediatr Cardiol. 2013;34(5):1244-6.
	Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects.
21709654	MIXED_SAMPLE	Adult
	Oral features in five adult patients with Wolf-Hirschhorn syndrome.
	Dellavia C, Raiteri S, Ottolina P, Pregliasco F. Minerva Stomatol. 2011;60(7-8):391-402.
	The Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition presenting with severe mental disability, growth retardation, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.
17675032	FEMALE
	A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy.
	Unalp A, Uran N, Giray O, Ercal D. Pediatr Neurol. 2007;37(2):140-3.
	Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome.
17696124	MIXED_SAMPLE	Infant
	Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.
	South ST, Bleyl SB, Carey JC. Am J Med Genet A. 2007;143A(18):2137-42.
	Wolf-Hirschhorn syndrome (WHS) is characterized by growth delay, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features.
16498629	FEMALE	Infant, Newborn
	Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
	Casaccia G, Mobili L, Braguglia A, Santoro F, Bagolan P. Birth Defects Res A Clin Mol Teratol. 2006;76(3):210-3.
	Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures.
15948183	FEMALE
	The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
	Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona F, Martinez-Fernandez ML, Murdolo M, Martinez-Frias ML. Am J Med Genet A. 2005;136(2):175-8.
	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.
15108210	MALE	Infant
	Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.
	van Dooren MF, Brooks AS, Hoogeboom AJ, van den Hoonaard TL, de Klein JE, Wouters CH, Tibboel D. Am J Med Genet A. 2004;127A(2):194-6.
	Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy.
15628261	OTHER	Infant
	[Wolf-Hirschhorn syndrome].
	Heljic S, Catibusic F, Dozic M, Mackic M. Med Arh. 2004;58(5):318-20.
	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, microcephaly, facial dysmorphism, congenital hypotonia and seizures in neonatal period.