Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.
Cohen
M M
MM
Department of Oral & Maxillofacial Sciences, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
D000130:Achondroplasia / Q000150:complications / Q000235:genetics / Q000473:pathology; D001846:Bone Development / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000150:complications / Q000235:genetics / Q000473:pathology
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3