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- W2072413621 abstract "The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients. Le syndrome de Wolf-Hirschhorn englobe différentes délétions de la partie distale du bras court d’un des chromosomes 4 (région 4q16). Les signes cliniques habituels sont un faciès typique, un retard mental, un retard de croissance intra-utérine et post-natale, des anomalies musculaires (hypotonie, diminution de masse, crises convulsives, malformations cardiaques), des anomalies de la ligne médiane, des malformations des voies urinaires et des malformations cérébrales, auriculaires et ophtalmiques. Le syndrome de Wolf-Hirschhorn est une pathologie multigénique. Le pronostic est multifactoriel selon l’étendue de la délétion, la présence d’anomalies chromosomiques importantes, l’intensité des crises convulsives, la présence d’anomalies internes (surtout cardiaques) et l’importance du retard mental. En général, le phénotype est similaire chez l’adulte et chez l’enfant : dysmorphose faciale, retard de croissance, retard mental. Il est essentiel d’éviter des complications chroniques, de prévoir des programmes de rééducation et de proposer des conseils génétiques pour ces patients." @default.
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- W2072413621 date "2014-06-01" @default.
- W2072413621 modified "2023-09-23" @default.
- W2072413621 title "Clinical features in adult patient with Wolf-Hirschhorn syndrome" @default.
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- W2072413621 doi "https://doi.org/10.1016/j.morpho.2014.02.002" @default.
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