Abstract
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.
Copyright © 2011 Wiley Periodicals, Inc.
MeSH terms
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Abnormal Karyotype
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Adolescent
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Bone Diseases, Developmental / diagnostic imaging
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Bone Diseases, Developmental / genetics
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Bone Diseases, Developmental / pathology
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Child, Preschool
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Chromosome Deletion*
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Chromosomes, Human, Pair 8 / genetics*
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DNA-Binding Proteins / genetics
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Ectromelia / diagnostic imaging
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Ectromelia / genetics
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Ectromelia / pathology
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Humans
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Langer-Giedion Syndrome / genetics*
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Langer-Giedion Syndrome / pathology
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Male
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N-Acetylglucosaminyltransferases / genetics
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Radiography
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Repressor Proteins
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Tibia / abnormalities
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Tibia / diagnostic imaging
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Tibia / pathology
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Transcription Factors / genetics
Substances
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DNA-Binding Proteins
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Repressor Proteins
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TRPS1 protein, human
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Transcription Factors
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N-Acetylglucosaminyltransferases
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exostosin-1