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

Lia Zitano, Randall T. Loder, Mervyn D. Cohen, David D. Weaver

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)2309-2316
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number9
StatePublished - Sep 1 2012


  • Bone dysplasia
  • Lateral bowing
  • Short stature
  • Tibia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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