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Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
Halil Aslan, Nilay Karaca, Seher Basaran, Hayri Ermis, Yavuz Ceylan
BMC Pregnancy and Childbirth , 2003, DOI: 10.1186/1471-2393-3-1
Abstract: A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype.The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.Wolf-Hirschhorn syndrome (WHS) is a well-known chromosomal disorder first described by Cooper and Hirschhorn in 1961 [1]. Since the first clinical description, more than 120 cases have been reported [2]. It is attributable to partial loss of material from the short arm of chromosome 4, with the majority of cases (87%) being de novo deletions of preferential paternal origin.WHS is characterized by intrauterine growth restriction, mental retardation, characteristic facial dysmorphism, microcephaly, ear lobe anomalies and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects) [3].Prenatal diagnosis of Wolf-Hirschhorn syndrome has been reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies [4]. We report a case in which congenital hypospadias and clubfoot was detected prenatally at 29 weeks' gestation in association with intrauterine growth restriction.A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. The couple were healthy, nonconsanguineous, with unremarkable medical history. There was no family history of congenital defects. The woman denied cigarette smoking, use of alcohol, illicit drugs or medication, in addition to any intrauterine teratogenic or infectious exposure. Sonographic examination revealed a single live fetus. Fetal biparietal diameter, abdominal circu
Síndrome de Wolf-Hirschhorn: Microdeleción distal del brazo corto del cromosoma 4
AVI？A F,JORGE A; A,DANIEL; HERNáNDEZ,A;
Revista chilena de pediatría , 2008, DOI: 10.4067/S0370-41062008000100007
Abstract: background: wolf-hirschhorn syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. the clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. objetive: describe a clinical case of wolf-hirschhorn syndrome, with specific description of craniofacial dysmorphological features. case report: a female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. conclusions: the fluorescence in situ hybridization (fish) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. a case of probable de novo mutation with deletion of gene whsc1 and other linked contiguous genes
Epilepsy in a child with Wolf-Hirschhorn syndrome
Miti？ Vesna,？uturilo Goran,Novakovi？ Ivana,Dimitrijevi？ Nikola
Srpski Arhiv za Celokupno Lekarstvo , 2011, DOI: 10.2298/sarh1112795m
Abstract: Introduction. Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. Case Outline. We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation. Generalized muscle hypotonia was observed at birth. First seizures started at age of 9 months as unilateral convulsive status epilepticus (SE), sometimes with bilateral generalization. Seizures were often triggered by fever and were resistant to antiepileptic treatment. Introduction of lamotrigine and valproate therapy led to complete seizure control at the age of 33 months. Electroencephalographic (EEG) finding was typical at the beginning. After transitory improvement between age four and five years, epileptiform EEG activity appeared again at the age of five years, without observed clinical seizures. Magnetic resonance imaging showed diffuse brain atrophy and delay in myelination. Using Multiplex ligation-dependent probe amplification (MLPA) method, we disclosed heterozygote microdeletation of the distal part of the short arm of chromosome 4 (4p16). Conclusion. We present a clinical course of epilepsy in a patient with Wolf-Hirschhorn syndrome. The diagnosis was verified by modern molecular technique. This is the first molecular characterization of a patient with WHS performed in our country.
Síndrome de Wolf-Hirschhorn: Microdeleción distal del brazo corto del cromosoma 4 Wolf-Hirschhorn Syndrome: distal microdeletion of chromosome 4 short arm
JORGE A AVI？A F,DANIEL A,A HERNáNDEZ
Revista chilena de pediatría , 2008,
Abstract: Introducción: El síndrome de Wolf-Hirschhorn es una rara enfermedad causada por una anormalidad cromosómica debida a una microdeleción distal del brazo corto del cromosoma 4; sus manifestaciones clínicas son: malformación craneofacial, retardo psicomotor severo, y alteraciones neurológicas diversas. Objetivo: Descripción de un caso clínico de Wolf-Hirschhorn, con énfasis en las alteraciones craneofaciales ilustrativas de la enfermedad. Cuadro clínico: Lactante hipotónico con microcefalia y rostro peculiar de "yelmo guerrero griego": frente amplia, glabela prominente, hipertelorismo, epicanto interno y nariz achatada; paciente con retardo en crecimiento pre y postnatal, retraso psicomotor y convulsiones. La confirmación del diagnóstico se logró con cariotipo de hibridación fluorescente in situ (FISH) mostrando microdeleción distal en brazo corto del cromosoma 4, banda pl5. Conclusión: El caso puede corresponder a una mutación de novo con deleción del gen WHSC1 y otros vecinos pues es un síndrome de genes contiguos Background: Wolf-Hirschhorn Syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. The clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. Objetive: Describe a clinical case of Wolf-Hirschhorn Syndrome, with specific description of craniofacial dysmorphological features. Case report: A female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. Conclusions: The fluorescence in situ hybridization (FISH) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. A case of probable de novo mutation with deletion of gene WHSC1 and other linked contiguous genes
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu, Juliana F.;Krepischi-Santos, Ana Cristina;Rosenberg, Carla;Louren？o, Charles M.;Lezirovitz, Karina;Szuhai, Karoly;Martelli, Lúcia R.;Vianna-Morgante, Angela M.;
Genetics and Molecular Biology , 2007, DOI: 10.1590/S1415-47572007000300007
Abstract: chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in pitt-rogers-danks syndrome (prds) and wolf-hirschhorn syndrome (whs), the former being considered a milder phenotype of the latter. we describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (array-cgh). in addition to the typical features of prds, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness) infrequently, or never previously, reported in prds. these findings broaden the spectrum of anomalies generally associated with these syndromes.
Extremely Low Birthweight Infant with Wolf-Hirschhorn Syndrome: A Dilemma in Determination of the Optimal Timing of Delivery
Shigeo Iijima,Takehiko Ohzeki
Clinical Medicine : Case Reports , 2008,
Abstract: Wolf-Hirschhorn syndrome (WHS) is characterized by multiple malformations as well as mental and developmental defects resulting from the absence of a distal segment of the short arm of chromosome 4. We experienced an extremely low birthweight infant with WHS. The male infant (birthweight 934 g) was born at 31 weeks’ gestation by cesarean section due to intrauterine growth restriction and presented with the typical WHS phenotype. Chromosomal analysis showed a deletion: 6,XY,del(4)(p15.3 p16). Although the patient’s respiratory distress syndrome resolved favourably and his subsequent condition was also stable, he had unusually severe retinopathy of prematurity and periventricular leukomalacia. We suppose that these severe complications were associated with not only prematurity but also with latent structural fragility due to WHS. Herein, we discuss the prenatal detection of WHS and the optimal timing of delivery.
LETM1 in mitochondrial cation transport
Karin Nowikovsky,Paolo Bernardi
Frontiers in Physiology , 2014, DOI: 10.3389/fphys.2014.00083
Abstract:
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, Dimitra Kappou, Panagiotis Peitsidis, Maria Kontodiou, Antonios Garas, Nikolaos Vrachnis, Anastasia Konstandinidou, Orsetta Zuffardi, Sandro Orru, Ioannis Papoulidis
Molecular Cytogenetics , 2012, DOI: 10.1186/1755-8166-5-12
Abstract: Wolf-Hirschhorn syndrome (WHS; OMIM 194190) [1], also known as deletion 4p and 4p-syndrome, is a well known clinical condition caused by a partial deletion of the short arm of chromosome 4. WHS was first (and independently) described by Wolf et al. (1965) and Hirschhorn et al. (1965) [2,3]; thereafter, more than 180 documented cases have been published in the literature, most of them diagnosed postnatally. The prevalence of WHS is reported to be around 1/50.000 live births with a 2:1 female/male ratio; however, this is likely underestimated because of under-recognition or misdiagnosis of affected individuals [4,5].In the majority of cases, WHS is caused by a "pure" deletion of 4p16 with no other cytogenetic abnormality while in the remaining cases, there could be a more complicated cytogenetic finding such as chromosome 4 ring, 4p- mosaicism, or a derivative chromosome 4 resulting from either a de novo or inherited unbalanced translocation [5,6]. The complexity of the WHS-associated basic genomic changes is an important factor explaining phenotypic variability; though the typical clinical features include growth restriction of prenatal onset, profound psychomotor retardation, seizures, skeletal abnormalities, and a distinctive facial appearance [7]. Associated major malformations with variable incidence (30-70%) are mainly related to midline fusion defects such as midline scalp defects, agenesis of corpus callosum, cleft lip/palate, heart defects, and urinary tract malformations [7,8].Most prenatally diagnosed cases of WHS are associated with large 4p deletions identified by conventional chromosome analysis while the widespread clinical use of novel high-resolution molecular techniques such as array comparative genomic hybridization (a-CGH) increased the detection rate of submicroscopic chromosomal aberrations that could also lead to a WHS phenotype. Herein, we present two WHS cases suspected upon abnormal signs in prenatal ultrasonography, diagnosed with convention
Wolf-Hirschhorn 综合征1例报道并文献复习
黄志敏,钟娩玲
中国儿童保健杂志 , 2019, DOI: 10.11852/zgetbjzz2018-0000
Abstract:
Wolf-Hirschhorn综合征1例报告
刘亚萍,郭丽格
中国儿童保健杂志 , 2017, DOI: 10.11852/zgetbjzz2017-25-01-31
Abstract:
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