title: Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
abstract: We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is alive and presents a medical history similar to that of patients with achondroplasia. The events leading to such a discrepancy between genotype and phenotype are unclear. These rare cases may influence an appropriate medical and genetic counseling.
authors.affiliation: Department of Pediatrics and Regional Center of Hand Surgery, San Paolo Hospital, Savona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Camera
authors.forename: M
authors.initials: M
authors.lastname: Baldi
authors.forename: G
authors.initials: G
authors.lastname: Strisciuglio
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.forename: P
authors.initials: P
authors.lastname: Mastroiacovo
authors.forename: M
authors.initials: M
authors.lastname: Baffico
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics* / Q000473:pathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3