Spondyloepiphyseal dysplasia congenita with absent femoral head

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

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene encoding the type II procollagen α1 chain, proα1 (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 more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur. The less seriously affected patient was taller (145 cm) and had no atlantoaxial instability, absence of the femoral head on radiography with visible cartilage anlage on MRI, and subluxated cartilaginous femoral head. A mutation analysis was performed using direct sequencing. Two novel dominant mutations were found in the COL2A1 gene of these two patients: G277 V and G238S, respectively. Although glycine was substituted with valine and serine in the proα1 (II) of these two patients, their phenotypes were significantly different in physical and radiologic evaluations.

Original languageEnglish
Pages (from-to)63-69
Number of pages7
JournalJournal of Pediatric Orthopaedics Part B
Volume13
Issue number2
DOIs
Publication statusPublished - 2004 Mar
Externally publishedYes

Keywords

  • Absent femoral head
  • COL2A1
  • Cervical instability
  • Collagen
  • Mutation
  • Spondyloepiphyseal dysplasia congenita

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Orthopedics and Sports Medicine

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