Sotos syndrome is a complex genetic disease first described by Sotos' in 1964. The four major criteria in the diagnosis were established in 1994 by Cole and Hughes'. Basing their findings on the systematic assessment of 41 typical cases they characterized this syndrome by: 1. Advanced bone age. 2. Macrocephaly. 3. Characteristic facial appearance: the face is round with an abnormal prominence of the forehead and becomes longer in adolescence. 4. Learning difficulties. This is often associated with delay in walking that can start after 15 months of age and speech delay until 2,5 year of age. Other findings include dolicocephaly, prognatism, hypertelorism, high-arched palate, early eruption of teeth, seizures, scoliosis and congenital heart defects 3-4. Affected patients also show social contact problems and anxious behavior 5. For forty years the diagnosis of Sotos syndrome has been based on subjective evaluation of clinical features. More recently genetic studies showed mutations of gene NSD 1 in almost all the patients. The intragenic mutation of NSD 1 gene causes 60-80% of Sotos syndromes in Europe and USA, whereas 5q35 microdelections encompassing NSD 1 cause 10% of cases 6-7. In contrast, NSDI microdelections are the primary cause ofSotos syndrome in Japan where the incidence the incidence of congenital heart defects seems to be higher 8. The gene NSDI encodes a hystone methyltransferase implicated in chromatin regulation 9. We present a case ofSotos syndrome which underwent regional anesthesia with spontaneous breath sedation for neurological flat foot.

Chierichini, A., Messina, A., Vergari, A., Santoprete, S., Rassanito, L., Regional anesthesia in a child with sotos syndrome, <<INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY>>, 2011; 2011 vol. 1 (1 Suppl 2): 21 (S2)-23 (S2) [http://hdl.handle.net/10807/123681]

Regional anesthesia in a child with sotos syndrome

Chierichini, Angelo;Messina, Antonio;Vergari, Alessandro;Santoprete, Stefano;
2011

Abstract

Sotos syndrome is a complex genetic disease first described by Sotos' in 1964. The four major criteria in the diagnosis were established in 1994 by Cole and Hughes'. Basing their findings on the systematic assessment of 41 typical cases they characterized this syndrome by: 1. Advanced bone age. 2. Macrocephaly. 3. Characteristic facial appearance: the face is round with an abnormal prominence of the forehead and becomes longer in adolescence. 4. Learning difficulties. This is often associated with delay in walking that can start after 15 months of age and speech delay until 2,5 year of age. Other findings include dolicocephaly, prognatism, hypertelorism, high-arched palate, early eruption of teeth, seizures, scoliosis and congenital heart defects 3-4. Affected patients also show social contact problems and anxious behavior 5. For forty years the diagnosis of Sotos syndrome has been based on subjective evaluation of clinical features. More recently genetic studies showed mutations of gene NSD 1 in almost all the patients. The intragenic mutation of NSD 1 gene causes 60-80% of Sotos syndromes in Europe and USA, whereas 5q35 microdelections encompassing NSD 1 cause 10% of cases 6-7. In contrast, NSDI microdelections are the primary cause ofSotos syndrome in Japan where the incidence the incidence of congenital heart defects seems to be higher 8. The gene NSDI encodes a hystone methyltransferase implicated in chromatin regulation 9. We present a case ofSotos syndrome which underwent regional anesthesia with spontaneous breath sedation for neurological flat foot.
2011
Inglese
Chierichini, A., Messina, A., Vergari, A., Santoprete, S., Rassanito, L., Regional anesthesia in a child with sotos syndrome, <<INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY>>, 2011; 2011 vol. 1 (1 Suppl 2): 21 (S2)-23 (S2) [http://hdl.handle.net/10807/123681]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/123681
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