Symphalangism with metacarpophalangeal fusions and elbow abnormalities

Three generations of a family manifest similar skeletal abnormalities: proximal symphalangism with several unusual features, metacarpophalangeal synostoses, massive tarsal and carpal fusions and abnormalities of the elbows (radial head dislocation, radiohumeral synostosis). Two members of this famil...

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Bibliographic Details
Published in:Pediatric radiology 1976-02, Vol.4 (2), p.103-107
Main Authors: Kassner, E G, Katz, I, Qazi, Q H
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - classification
Abnormalities, Multiple - genetics
Adult
Elbow - abnormalities
Elbow - diagnostic imaging
Female
Fingers - abnormalities
Foot - diagnostic imaging
Hand - diagnostic imaging
Hand Deformities, Congenital
Humans
Infant, Newborn
Limb Deformities, Congenital
Radiography
Syndrome
Terminology as Topic
Toes - abnormalities
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Summary:Three generations of a family manifest similar skeletal abnormalities: proximal symphalangism with several unusual features, metacarpophalangeal synostoses, massive tarsal and carpal fusions and abnormalities of the elbows (radial head dislocation, radiohumeral synostosis). Two members of this family were previously reported by Pearlman et al. as examples of the Nievergelt syndrome, but the affected individuals lack the mesomelic dysplasia that is an integral part of that entity. Moreover, the Nievergelt syndrome does not include symphalangism. The term "Nievergelt-Pearlman syndrome" should be dropped.
ISSN:0301-0449
1432-1998
DOI:10.1007/BF00973952