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Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion
Author(s) -
Carvalho Daniel Rocha,
Santos Savana Camilla Lima,
Oliveira Maria Dulce Valverde,
SpeckMartins Carlos Eduardo
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34233
Subject(s) - hypoplasia , fibula , lower limb , ectromelia , tibia , medicine , anatomy , surgery , virus , virology
Langer–Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1‐q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval. © 2011 Wiley Periodicals, Inc.