KABUKI SYNDROME
Kabuki (Niikawa-Kuroki) syndrome (KS) is a condition of unknown etiology, characterized by a pentad of cardinal signs and symptoms: mental retardation, peculiar facies oriental-like, dermatoglyphic abnormalities including persistent finger and toe pads, skeletal anomalies and postnatal growth retard...
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| Autores principales: | , |
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| Formato: | Libro |
| Publicado: |
Amaltea Medical Publishing House,
2008-06-01T00:00:00Z.
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| Acceso en línea: | Connect to this object online. |
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| Sumario: | Kabuki (Niikawa-Kuroki) syndrome (KS) is a condition of unknown etiology, characterized by a pentad of cardinal signs and symptoms: mental retardation, peculiar facies oriental-like, dermatoglyphic abnormalities including persistent finger and toe pads, skeletal anomalies and postnatal growth retardation. Associated anomalies could be present: cleft lip/palate, visceral, ocular etc. Since the first description of KS in 1981 by Niikawa et al and Kuroki et al, more than 350 cases have been reported. We shortly review the KS emphasizing on the latest Romanian Kabuki patient. |
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| Notas: | 10.37897/RJP.2008.2.6 1454-0398 2069-6175 |