늘어지는 영아 증후군에서의 진단적 접근
Diagnostic Approach in Floppy Infants
1
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Floppy infant syndrome is a disease in which infants present with generalized hypotonia at birth or early infancy. There are many possible etiologies, which make a specific diagnosis difficult. The expanding knowledge of genetic disorders has made noninvasive genetic testing available for specific diagnoses. Therefore, it is very important for clinicians to use a systematic approach for the investigation of such children. In this chapter, I review the many possible etiologies of the floppy infant syndrome, and a systematic approach for the evaluation of this disorder will be proposed.
Abstract
Floppy infant syndrome is a disease in which infants present with generalized hypotonia at birth or early infancy. There are many possible etiologies, which make a specific diagnosis difficult. The expanding knowledge of genetic disorders has made noninvasive genetic testing available for specific diagnoses. Therefore, it is very important for clinicians to use a systematic approach for the investigation of such children. In this chapter, I review the many possible etiologies of the floppy infant syndrome, and a systematic approach for the evaluation of this disorder will be proposed.
참고문헌 (5)
- Darras BT., "Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis", Pediatr Neurol, 23, pp.289~300 (2000)
- Bornemann A., "Recent advances in hereditary neuromuscular disease of childhood", Br Pathol, 11, pp.190~192 (2001)
- Kissel JT., "Muscular dystrohy: historical overview and classification in the genetic era", Semin Neurol, 19, pp.5~7 (1999)
- Hoffmann EP., "Muscular dystrophy: Identification and use of genes for diagnostics and therapeutics", Arch Pathol Lab Med, 123, pp.1050~1052 (1999)
- Sander P., "Evaluation of the floppy infants", Curr Pediatri, 13, pp.345~349 (2003)