Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Aslan, Halıl; Karaca, Nilay; Başaran, Seher; Ermiş, Hayri; Ceylan, Yavuz

doi:10.1186/1471-2393-3-1

Cited by 21 publications

(17 citation statements)

References 12 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The skeletal anomalies, limited fetal growth, as well as hypospadias in males can be observed in the fetus during an ultrasound examination performed in the third trimester, and can be confirmed by a genetic examination during the pregnancy [35]. The more chromosomal material is missing, the easier it is to state the diagnosis, as a more severe syndrome is observed [7].…”

Section: Differential Diagnosismentioning

confidence: 92%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

View full text Add to dashboard Cite

Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

show abstract

Section: Differential Diagnosismentioning

confidence: 92%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

View full text Add to dashboard Cite

show abstract

“…De Keersmaecker et al [20] underlined the semiologic value of multifocal white matter lesions and periventricular cystic changes, which are classically attributed to perinatal distress. Heart defects (atrial septal defect and univentricular heart [15]) and cardiomegaly with arrhythmia [17], or esophageal atresia, diaphragmatic hernia [16], hyperechogenic bowel [20], upper limbs asymmetry [17] or foot deformity [21] have also been occasionally detected by ultrasound. In some publications, ovular abnormalities have been mentioned, such as oligohydramnios [18,19] placental chorioangioma [15,27] and single umbilical artery [10,16] (table 1).…”

Section: Discussionmentioning

confidence: 99%

“…Around 120 cases have been reported, most of them in childhood. Prenatal diagnosis has occasionally been encountered after an indicated amniocentesis for maternal age [8,9], parental unbalanced translocation [10][11] or for IUGR with or without associated fetal malformations [12][13][14][15][16][17][18][19][20][21]. We report the sonographic patterns of 6 cases affected by WHS, half of whom having been detected by standard karyotyping mainly because of IUGR and the other half having only been diagnosed through in situ hybridization completed because of the discordance between prenatal ultrasound or postnatal appearance of the child and apparent euploidy by conventional methods.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

Boog¹,

Vaillant²,

Collet

et al. 2004

Fetal Diagn Ther

View full text Add to dashboard Cite

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.

show abstract

“…The IUGR of the first patient was detected from the 23rd week of gestation. According to the litera ture [10,11], prenatal chromosomal analysis is indicated in the case of IUGR associated with other ultrasonog-raphically-detected anomalies (heart defects, hypospadia, sceletal anomalies).…”

Section: Balkan Journal Of Medical Geneticsmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Heljic

Hadžagić-Ćatibušić

Maksić

et al. 2007

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and HerzegovinaWolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.

show abstract

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Cited by 21 publications

References 12 publications

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Contact Info

Product

Resources

About