Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

Abstract

Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.

• Authors: R Petrella, M D Ludman, J G Rabinowitz, F Gilbert, K Hirschhorn
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 37 Issue 1 Pg. 10-4 (Sep 1990) ISSN: 0148-7299 [Print] United States
• PMID: 2240023 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S., Review)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Dwarfism (diagnosis, diagnostic imaging, genetics)
• Fibula (abnormalities)
• Humans
• Infant
• Male
• Radiography
• Syndrome
• Toes (abnormalities)