Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.

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.

• Authors: Daniel Rocha Carvalho, Savana Camilla Lima Santos, Maria Dulce Valverde Oliveira, Carlos Eduardo Speck-Martins
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 11 Pg. 2784-7 (Nov 2011) ISSN: 1552-4833 [Electronic] United States
• PMID: 21948702 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Wiley Periodicals, Inc.

Chemical References

• DNA-Binding Proteins
• Repressor Proteins
• TRPS1 protein, human
• Transcription Factors
• N-Acetylglucosaminyltransferases
• exostosin-1

Topics

• Abnormal Karyotype
• Adolescent
• Bone Diseases, Developmental (diagnostic imaging, genetics, pathology)
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 8 (genetics)
• DNA-Binding Proteins (genetics)
• Ectromelia (diagnostic imaging, genetics, pathology)
• Humans
• Langer-Giedion Syndrome (genetics, pathology)
• Male
• N-Acetylglucosaminyltransferases (genetics)
• Radiography
• Repressor Proteins
• Tibia (abnormalities, diagnostic imaging, pathology)
• Transcription Factors (genetics)