Spondylocarpotarsal synostosis with epiphyseal dysplasia.

Abstract

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. Such delay may have contributed to the distinctly short stature of this boy. This report both confirms and extends the phenotype of this recently delineated syndrome.

• Authors: Christina Honeywell, Leonard Langer, Judith Allanson
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 109 Issue 4 Pg. 318-22 (May 15 2002) ISSN: 0148-7299 [Print] United States
• PMID: 11992487 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Carpal Bones (abnormalities)
• Child
• Child, Preschool
• Humans
• Male
• Osteochondrodysplasias (pathology)
• Phenotype
• Spine (abnormalities)
• Syndrome
• Synostosis (pathology)
• Tarsal Bones (abnormalities)