Kabuki make-up syndrome

Acta Ortopédica Brasileira

Ana Paula Tedesco Gabrieli¹  Fernanda Velho Rovaris¹  Laura Elaine Bisol¹  Lívia Borges¹  Marja Mandelli Michelin¹  Louise Lovatto¹ 

[1] ,Universidade de Caxias do Sul Orthopedic and Traumatologic Surgery Service Caxias do Sul RS

关键词: Kabuki make-up syndrome;    Pentad of Niikawa;    ortopedic aspects;    Síndrome da maquiagem de kabuki;    pêntade de Niikawa;    aspectos ortopédicos;   

DOI  :  10.1590/S1413-78522002000300008

来源: SciELO

【 摘 要 】

The Kabuki Make-up Syndrome is a rare congenital anomaly, characterized by five fundamental features, the " Pentad of Niikawa": dysmorphic facies, skeletal anomalies; dermatoglyphic abnormalities, mild to moderate mental retardation, postnatal growth deficiency. Orthopaedic aspects include scoliosis, malformation of spinal column and ribs, delay in skeletal maturation, congenital deslocation of the hip and patelar dislocation, among others.With the purpose of drawing attention to this diagnostic, the case of five years old brazilian female patient is presented.It´s convenient to present this case to focus on the existance of this syndrome and all its complexity and, therefore, provide help for future diagnosis.

【 授权许可】

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