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Irregular epiphyses and apophyses of femoral heads and acetabulae .
Spondyloepiphyseal dysplasia in a child who presented with short stature. Radiograph of the pelvis including femora shows irregular ossification of the heads and greater trochanters of the femora. In addition, there is irregular ossification of acetabula. Additional findings of the same nature in knees and ankles (not shown). Spine shows rectangular vertebrae (not shown).
This is a rare type of skeletal dysplasia. The differential diagnosis includes:
- congenital hypothyroidism (cretinism)
- chondrodysplasia calcificans congenita
- mother on anticoagulant therapy
- 1. Wu X, Deng K, Wang C et-al. Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda. Zhonghua Yi Xue Yi Chuan Xue Za Zhi.32 (4): 476-80. Pubmed citation
- 2. Barat-Houari M, Baujat G, Tran Mau Them F et-al. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. Am. J. Med. Genet. A. 2015; . doi:10.1002/ajmg.a.37374 - Pubmed citation