PMID: 9450868Feb 5, 1998Paper

Comparison of clinical-radiological and molecular findings in hypochondroplasia

American Journal of Medical Genetics
C PrinsterM Ferrari

Abstract

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm cor...Continue Reading

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Citations

Sep 13, 2011·American Journal of Medical Genetics. Part a·Angeliki HatzakiVoula Velissariou
Feb 4, 2012·American Journal of Medical Genetics. Part a·Tomoko SaitoMakoto Uchiyama
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Yuan XueWilliam R Wilcox
Apr 10, 2014·American Journal of Medical Genetics. Part a·M Laura Garcia De RosaM Gabriela Obregon
Sep 23, 2014·Pediatrics International : Official Journal of the Japan Pediatric Society·Kosei Hasegawa, Hiroyuki Tanaka
Mar 18, 2015·European Journal of Endocrinology·Sarina G KantMonique Losekoot
Jun 24, 2004·American Journal of Medical Genetics. Part a·N Simon ThomasBruce Castle
Apr 23, 2003·American Journal of Medical Genetics. Part a·Christel Thauvin-RobinetMartine Le Merrer
Oct 20, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·María Alejandra ArenasVirginia Fano
Nov 15, 2006·American Journal of Medical Genetics. Part a·M Michael Cohen
Jan 30, 2007·American Journal of Medical Genetics. Part a·Heloísa G SantosAndrew Wilkie
Apr 1, 2006·American Journal of Medical Genetics. Part a·C KaradimasA Hatzaki
Jan 19, 2006·Annals of Human Biology·Virginia FanoHoracio Lejarraga
Jun 11, 2014·The Journal of Clinical Endocrinology and Metabolism·Andrew DauberJoel N Hirschhorn
Jul 29, 1999·Human Mutation·M R Passos-BuenoH Kitoh
Dec 17, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Young-Lim ShinHan-Wook Yoo
Sep 29, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Sara P AbrahamMichaela Bosakova

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