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Article

Spondylocarpotarsal synostosis with epiphyseal dysplasia.

American journal of medical genetics - 15 May 2002

Honeywell Christina, Langer Leonard, Allanson Judith

Abstract excerpt

We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome. Unlike other documented cases, radiographs of our patient at 5(1/2) years of age show delay in ossification of many of the epiphyses in addition to delay in carpal ossification....

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Identifiers

PMID: 11992487
DOI: 10.1002/ajmg.10383

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