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Rehabilitation Practice and Science

Translated Title

歌舞伎臉譜症候群：病例報告

Abstract

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Although first reported in Japan, it has been recognized in other parts of the world. The present case with KS is a five-year-old boy. Because of his pervasive developmental delay, he received care in rehabilitation programs hosted by our hospital. He had prominent ears, depressed nasal tip, long palpebral fissures, and long eyelashes. The common features of KS in him are postnatal growth retardation, moderate mental retardation, scoliosis, cleft palate, flat feet, fifth finger clinodactyly, hypotonia, joint laxity and right peripheral hearing disorder. We describe this case as a reminder to clinical doctors. In addition to paying attention to his developmental condition, the physician should be careful about associated diseases of other systems. KS patients need a team providing medical, educational, psychological and social support and treatment. (Tw J Phys Med Rehabil 2012; 40(1): 41 - 45)

Language

Traditional Chinese

First Page

41

Last Page

45

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