title: Spondyloepiphyseal dysplasia tarda: report of one case.
abstract: We report the clinical assessment and mutational analysis of one boy with spondyloepiphyseal dysplasia tarda (SEDT). His short stature manifested between age 5 and 10. As his growth slowed, his height fell from the mean for his age at 5 to the 2nd percentile at age 10.5. His bone age was retarded at 8 years, thus his predicted adult height was 164.9 cm, not far from his target height of 170cm. However, upon physical examination, he presented markedly short trunk. We suspected SEDT and X-ray finding of his spine supported this diagnosis. We performed DNA analysis on the SEDL gene and detected a 5-bp deletion in exon 5 which has been previously reported by Mumm et al. and Gedeon et al. in cases of SEDT.
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taiwan.
authors.forename: San-Ging
authors.initials: SG
authors.lastname: Shu
authors.forename: Chi-Ren
authors.initials: CR
authors.lastname: Tsai
authors.forename: Ching-Shiang
authors.initials: CS
authors.lastname: Chi
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D014157:Transcription Factors; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors