Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome.

Abstract

In this report, we describe two siblings with short stature and severe lateral tibial bowing. In the younger sibling, the bowing was bilateral, while in the older sib, it was unilateral. However, both showed bilateral abnormalities of the distal tibial epiphyses and growth plates. Pseudoarthrosis of the left distal tibial metaphysis and subsequent spontaneous resolution of the abnormality occurred in the younger sibling. The fibulas of both children were of normal diameter and were straight, except for the distal ends. Surgery has almost completely corrected the lower leg bowing in both patients. The type of tibial bowing seen in these children can be associated with a number of syndromes, such as neurofibromatosis type I, Weismann-Netter syndrome, and a variety of environmental caused disorders, such as vitamin D deficient rickets. However, the severity of the bowing present in our patients and the absence of other clinical features differentiates this condition from those reported in the literature. We posit that the condition in the children presented here represents an as yet undescribed syndrome, which is likely to be of genetic origin.

• Authors: Lia Zitano, Randall T Loder, Mervyn D Cohen, David D Weaver
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 9 Pg. 2309-16 (Sep 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22927185 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Body Height
• Child
• Female
• Humans
• Radiography
• Siblings
• Tibia (diagnostic imaging, physiopathology)