| A Case of Beals Syndrome |
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Sung Kee Park, Tae Woo Kim, Young Soo Baik, Chang Yeon Lee, Suk Kang, Moon Jib Yoo, Jae Hwy Lee, Moon Whan Im |
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Department of Pediatrics, Dongguk University Pohang Hospital, Pohang, Korea |
| Beals 증후군 (Congenital Contractural Arachnodactyly) 1례 |
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박성기, 김태우, 백영수, 이창연, 강석, 유문집, 이재휘, 임문환 |
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동국대학교 의과대학 부속 포항병원 소아과 |
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| Abstract |
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Beals syndrome, congenital contractural arachnodactyly (CCA), is an autosomal dominant disorder of connective tissue sharing many of the clinical manifestations of Marfan's syndrome, characterized by congenital joint contractures, crumpled ears, arachnodactyly (dolichostenomelia), kyphoscoliosis, and autosomal dominant inheritance.
Differential diagnosis of CCA includes Marfan syndrome, Achard syndrome, homocystinuria, osteogenesis imperfecta, Stickler syndrome, and arthrogryposis multiplex congenita. Especially, the major consideration is Marfan syndrome because of the difference in prognosis.
We experienced a case of CCA in 1 year-old girl with congenital multiple joint contracutres, crumpled ears, arachnoddactyly, dolichostenomelia, and mild scoliosis.
A brief review of literature was done. |
| Key Words:
Congenital Contractural Arachnodactyly, Beals Sydrome |
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