Síndrome de Smith-Magenis: aportación de dos nuevos casos y aproximación a su característico fenotipo conductual
2004; Viguera Publishers; Volume: 38; Issue: 11 Linguagem: Inglês
10.33588/rn.3811.2004101
ISSN1576-6578
AutoresManuel Oscar Blanco Barca, María Gallego Blanco, Clara Ruiz Ponte, Francisco Barros, Casilda Esquete López, Jesús Manuel Eirís Puñal, Manuel Castro Gago,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoSmith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity.Our aim was to report the cases of two children with SMS and carry out an approximation towards their characteristic behavioural phenotype.We studied the cases of two 12-year-old children who were suspected of suffering from SMS following the findings of a physical exploration and the presence of a specific behavioural phenotype. This was confirmed by the genetic-molecular study which proved the existence of the 17p11.2 deletion.Although SMS is a relatively infrequent syndrome, a patient with mental retardation and characteristic dysmorphic features who presents an especially relevant behavioural disorder including different stereotypic movements, aggression phenomena and sleep disorders is suggestive of this diagnostic possibility.
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