An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome

Çelik, Gökhan; Oto, Bilge Batu; Kizilay, Osman; Kılıçarslan, Oğuzhan; Toptan, Handan Hakyemez

doi:10.1080/13816810.2021.1888130

Cited by 3 publications

(1 citation statement)

References 6 publications

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“…In addition, WHS is characterized by developmental delays, varying degrees of intellectual impairment, hypotonia (mainly involving the lower extremities), epilepsy or specific electroencephalogram changes, and microcephaly (Mekkawy et al, 2021 ; Simonini et al, 2022 ; Yamamoto‐Shimojima et al, 2019 ). Some patients present with skeletal abnormalities (Buddhdev et al, 2020 ), eye or optic nerve abnormalities (Çelik et al, 2021 ), tumors of various systems (Battaglia et al, 2018 ), dental abnormalities, hearing disorders, heart malformations, cleft lip or palate, urogenital tract malformations, brain structural abnormalities, and digestive system malformations (Mekkawy et al, 2021 ; Simonini et al, 2022 ). Given the lack of effective treatment for WHS, most patients have poor prognosis.…”

Section: Introductionmentioning

confidence: 99%

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

Tang

Zeng

Wang

et al. 2023

Molec Gen & Gen Med

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Objective: Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counseling are essential for intrauterine diagnosis. Method:We retrospectively analyzed 11 prenatal cases of WHS diagnosed using low-depth whole-genome sequencing (copy number variation sequencing) performed at our hospital from May 2017 to September 2022 and reviewed their prenatal ultrasound reports in detail. We also analyzed WHS cases (including prenatal and postnatal) with abnormal prenatal ultrasound findings in the published literature over the past 20 years.Results: Among the 11 fetuses with a prenatal diagnosis of WHS in our hospital, four cases showed abnormal prenatal ultrasound findings, including shrunken kidneys, ventricular septal defect, a small stomach, fetal growth restriction (FGR), enlarged posterior fossa, and soft ultrasonic markers. Our four cases were

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Section: Introductionmentioning

confidence: 99%

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

Tang

Zeng

Wang

et al. 2023

Molec Gen & Gen Med

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Congenital Anomalies

Yanoff,

Sassani

2025

Ocular Pathology

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Current perspectives in hypospadias research: A scoping review of articles published in 2021 (Review)

Gozar¹,

Bara²,

Dicu³

et al. 2023

Exp Ther Med

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Hundreds of papers are written about hypospadias every year referring to all aspects of the pathology, being one of the most common congenital malformations. The present study conducted a scoping review of articles published in 2021 to present the main issues and summarize current perspectives and achievements in the field. It searched for the keyword 'hypospadias' in the three most popular databases (PubMed, Scopus and Web of Science). After the analysis of the publications, they were categorized into different domains.

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An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome

Cited by 3 publications

References 6 publications

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

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

Congenital Anomalies

Current perspectives in hypospadias research: A scoping review of articles published in 2021 (Review)

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