Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: características epidemiológicas y clínicas. Situación actual de los pacientes y opinión de sus cuidadores respecto al proceso diagnóstico

Blanco-Lago, Raquel; Málaga, Ignacio; Garcı́a-Peñas, Juan José; García-Ron, Adrián

doi:10.33588/rn.5702.2013175

Cited by 4 publications

(5 citation statements)

References 30 publications

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“…Approximately 70% of seizures in WHS are generalized tonic‐clonic but can present as absences or atypical absences 4 . In approximately 40% of cases, these seizures are triggered by fever, occasionally becoming status epilepticus in almost half of those affected, requiring admission to an intensive care unit in 1 of every 3 episodes 14,15 . Accordingly, approximately 80% of the drugs that are prescribed for this group are antiepileptic agents, especially valproic acid and levetiracetam, 4 which are generally administered in combination with each other or with neuroleptics 7,14 …”

Section: General Clinical Manifestationsmentioning

confidence: 99%

“…The global developmental defects that include psychomotor retardation and varying cognitive impairment are also part of the major medical determinants that children with WHS are afflicted with from birth 10 . A particularly affected area is speech 15 . It has been suggested that 30% of such patients can communicate verbally using single words and that only approximately 13% can communicate using short phrases 15 .…”

Section: General Clinical Manifestationsmentioning

confidence: 99%

“…A particularly affected area is speech 15 . It has been suggested that 30% of such patients can communicate verbally using single words and that only approximately 13% can communicate using short phrases 15 . Additionally, 50%–60% have hearing loss, 4 and 25%–50% have visual problems (such as glaucoma and bilateral optic nerve dysplasia) 15,16 …”

Section: General Clinical Manifestationsmentioning

confidence: 99%

“…Dentist‐patient communication is limited in a considerable proportion of individuals with WHS due to hearing loss, vision problems and speech difficulties. The presence of parents/caregivers in the dental office should therefore be considered, as well as alternative methods to oral/written language such as sign communication and pictograms, whose efficacy has been confirmed in more than 60% of patients 15 …”

Section: Dental Managementmentioning

confidence: 99%

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A practical approach to dental care for patients with Wolf‐Hirschhorn syndrome

Martín

Feijoo

Mato

et al. 2021

Special Care in Dentistry

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Wolf‐Hirschhorn syndrome is a polymalformative chromosomal disorder caused by a deletion in the distal region of the short arm of chromosome 4. The disease is considered rare (1/50,000 births) and predominantly affects females (2:1). In addition to the characteristic facial phenotype (“Greek warrior helmet”), its clinical manifestations include epilepsy, developmental and psychomotor delay, intellectual disability, cardiac and respiratory complications, and eating problems. The most prevalent oral manifestations are hypodontia, delayed tooth eruption, morphological dental abnormalities, dental malocclusions, cleft lip/palate and ogival palate. Based on our clinical experience, Wolf‐Hirschhorn syndrome does not represent an absolute contraindication for any type of dental procedure. The feasibility of dental treatment will depend mainly on the degree of epilepsy control and on the level of collaboration, this latter conditioned by the severity of the intellectual disability and communication difficulties.

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Section: General Clinical Manifestationsmentioning

confidence: 99%

Section: General Clinical Manifestationsmentioning

confidence: 99%

Section: General Clinical Manifestationsmentioning

confidence: 99%

Section: Dental Managementmentioning

confidence: 99%

See 2 more Smart Citations

A practical approach to dental care for patients with Wolf‐Hirschhorn syndrome

Martín

Feijoo

Mato

et al. 2021

Special Care in Dentistry

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“…Por esta razón, se han creado diferentes clasificaciones dirigidas a facilitar el diagnóstico genético y el asesoramiento, así como a definir y agrupar los distintos perfiles desde una perspectiva clínica. Su nomenclatura gira en torno a la severidad y al tamaño de la deleción que presentan (Blanco-Lago et al, 2013;Sabbadini, Bombardi, Carlesimo, Rosato y Pierro, 2002;Shimizu et al, 2014;Sukarova-Angelovska et al, 2014;Zollino, Di Stefano y Zampino, 2000;Zollino et al, 2008).…”

Section: Introductionunclassified

Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso

Martínez

Leguina

Hernández³

et al. 2020

RLOG

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El síndrome de Wolf-Hirschhorn (SWH) es un síndrome genético neuroevolutivo causado por una deleción del brazo corto del cromosoma 4 (4p16.3). Presentan un fenotipo variable con retraso del crecimiento pre y postnatal, epilepsia, retraso psicomotor, hipotonía, anomalías craneofaciales (facies en “casco griego” y defectos oclusivos), discapacidad intelectual y limitaciones en el uso del lenguaje tanto expresivo como comprensivo. El objetivo de este estudio es describir las habilidades comunicativas y lingüísticas de una niña con fenotipo atenuado de SWH a nivel de desarrollo fonológico, morfológico y léxico. Una niña española de 8;08 años diagnóstica de SWF mediante CGHarray, sin anomalías estructurales orofaciales significativas, salvo laringe muy inmadura. Sus habilidades lingüísticas se evalúan en situación de interacción durante 45 minutos, con pruebas estandarizadas y registro realizado por los padres. Se analiza la frecuencia y la naturaleza de los errores de producción en términos de procesos fonológicos. Los resultados muestran que sus habilidades lingüísticas receptivas equivalen a las de niños de 3;08 años. En situación de interacción produce menos de 50 palabras. No tiene adquirido todo el repertorio fonético español. La frecuencia de los procesos fonológicos es muy alta y característica de niños que se encuentran en los primeros momentos de la etapa verbal del desarrollo fonológico. La participante presenta habilidades fonológicas, morfológicas y léxicas propias de niños de 2-3 años con desarrollo típico. Su perfil lingüístico se ha observado en el retraso del lenguaje y en niños menores de 3;6 años con síndrome de Down. Determinar las características lingüísticas del SWH resulta imprescindible para la intervención logopédica.

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The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study

Peng,

Hu,

et al. 2024

European Journal of Obstetrics & Gynecology and Reproductiv

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Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: características epidemiológicas y clínicas. Situación actual de los pacientes y opinión de sus cuidadores respecto al proceso diagnóstico

Cited by 4 publications

References 30 publications

A practical approach to dental care for patients with Wolf‐Hirschhorn syndrome

A practical approach to dental care for patients with Wolf‐Hirschhorn syndrome

Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso

The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study

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