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Article

Spondyloepiphyseal dysplasia congenita with absent femoral head.

Journal of pediatric orthopedics. Part B - 1 Mar 2004

Jung Sung-Chul, Mathew Santosh, Li Qi-Wei, Lee Yong-Jun, Lee Kwang-Soo, Song Hae-Ryong

Abstract excerpt

Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene encoding the type II procollagen alpha1 chain, proalpha1 (II). Recently, the authors studied two Korean patients with SEDC. Both these patients had short stature, os odontoideum with or without atlantoaxial instability, platyspondyly, and epiphyseal dysplasia limited to the femoral heads. The...

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Identifiers

PMID: 15076581
DOI: 10.1097/00009957-200403000-00001

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