Subject(s)
Pediatrics/history , Physicians/history , Radiology/history , History, 20th Century , History, 21st Century , IrelandABSTRACT
Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 8/genetics , DNA-Binding Proteins/genetics , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , N-Acetylglucosaminyltransferases/genetics , Transcription Factors/genetics , Adipose Tissue/abnormalities , Child, Preschool , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Langer-Giedion Syndrome/diagnostic imaging , Male , Oligonucleotide Array Sequence Analysis , Phenotype , Radiography , Repressor Proteins , Toes/abnormalitiesABSTRACT
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome.