Sponastrime dysplasia: five new cases and review of nine previously published cases.

Abstract

Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.

• Authors: L O Langer Jr, R K Beals, S LaFranchi, C I Scott Jr, J J Sockalosky
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 63 Issue 1 Pg. 20-7 (May 03 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8723082 (Publication Type: Case Reports, Comparative Study, Journal Article, Review)

Topics

• Adolescent
• Bone Development
• Bone and Bones (diagnostic imaging)
• Child
• Child, Preschool
• Diagnosis, Differential
• Dwarfism (diagnostic imaging, genetics)
• Female
• Humans
• Infant
• Infant, Newborn
• Lumbar Vertebrae (diagnostic imaging, growth & development)
• Male
• Osteochondrodysplasias (diagnosis, diagnostic imaging, genetics)
• Radiography