| Arthrogryposis Multiplex Congenita in Siblings |
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Kyoung Hee Choi, Jeong Ah Park, Kyoung Sim Kim, Ki Bok Kim |
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Department of Pediatrics, Kwangju, Chiristian Hospital, Jwangju, Korea |
| 남매에서 발생한 선천성 다발성 관절구축증 |
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최경희, 박정아, 김경심, 김기복 |
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광주기독병원 소아과 |
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| Abstract |
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Arthrogryposis multiplex congenita is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Most cases are sporadic, although rare cases of familial recurrence are reported worldwide. Recently, we experienced 2 cases of arthrogryposis multiplex congenita in a family (a brother and a sister). They were born with micrognathia, low set ears, broad and short neck, hemangioma, cleft palate and multiple joint deformities of extremities. The occurrence of the syndrome in 2 siblings of different sex suggests autosomal recessive inheritance. |
| Key Words:
Arthrogryposis multiplex congenita, Autosomal recessive inheritance |
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