Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome
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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
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature
Sign Up to like & getrecommendations! 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
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
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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
Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome
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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
Hepatoblastoma and Wolf–Hirschhorn syndrome: Coincidence or a new feature of a rare disease?
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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
P119 Wolf hirschhorn syndrom (a case report)
Sign Up to like & getrecommendations! 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
Síndrome de Wolf-Hirschhorn. Descripción de una cohorte española de 51 casos y revisión de la bibliografía
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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