Articles with "wolf hirschhorn" as a keyword



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Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome

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Published in 2022 at "Neuropediatrics"

DOI: 10.1055/a-2077-1988

Abstract: Abstract Background  Wolf–Hirschhorn syndrome (WHS) is caused by deletion of the terminal region of chromosome 4 short arm and is frequently associated with intractable epilepsy. Objective  This article evaluates the clinical features of epileptic seizures… read more here.

Keywords: antiseizure medications; seizure; whs; age ... See more keywords
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Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

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Published in 2021 at "Journal of Pediatric Genetics"

DOI: 10.1055/s-0041-1729751

Abstract: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart… read more here.

Keywords: hyperparathyroidism; hirschhorn syndrome; wolf hirschhorn; case ... See more keywords
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An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome

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Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2021.1888130

Abstract: ABSTRACT Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case… read more here.

Keywords: hirschhorn syndrome; optic nerve; wolf hirschhorn; nerve ... See more keywords
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Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome

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Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000018268

Abstract: Abstract Rationale: Wolf-Hirschhorn Syndrome (WHS) is a rare disorder caused by the loss of the distal part of the short arm of chromosome 4, and has various phenotypes depending on the deletion size. Although many… read more here.

Keywords: wolf hirschhorn; cervical vertebrae; whs; hirschhorn syndrome ... See more keywords
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Hepatoblastoma and Wolf–Hirschhorn syndrome: Coincidence or a new feature of a rare disease?

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Published in 2017 at "Pediatrics International"

DOI: 10.1111/ped.13345

Abstract: Wolf–Hirschhorn syndrome (WHS) is a chromosomal disorder characterized by multiple congenital anomalies. Deletion of the distal part of chromosome 4 (4p 16.3) is the underlying cause of the disease. Typically patients have a wide nasal… read more here.

Keywords: feature; hirschhorn syndrome; disease; wolf hirschhorn ... See more keywords
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P119 Wolf hirschhorn syndrom (a case report)

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Published in 2019 at "Archives of Disease in Childhood"

DOI: 10.1136/archdischild-2019-epa.474

Abstract: Introduction Wolf-Hirschhorn syndrome is a rare condition including a characteristic facial appearance, delayed growth and development, hypotonia, intellectual disability and seizures. Its frequency is estimated at 1/20000 to 1/50000 births with a female predilection. It’s… read more here.

Keywords: wolf; hirschhorn syndrome; case report; wolf hirschhorn ... See more keywords
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Síndrome de Wolf-Hirschhorn. Descripción de una cohorte española de 51 casos y revisión de la bibliografía

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Published in 2017 at "Revista De Neurologia"

DOI: 10.33588/rn.6409.2016414

Abstract: Introduccion. El sindrome de Wolf-Hirschhorn (SWH) es un sindrome de genes contiguos que provoca multiples anomalias congenitas, causado por la perdida de una porcion distal del brazo corto del cromosoma 4 (4p16.3). Se caracteriza por… read more here.

Keywords: con; cohorte; wolf; wolf hirschhorn ... See more keywords