title: [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
abstract: BACKGROUND
  Thanatophoric dwarfism is a lethal bone dysplasia causing severe disturbance in body proportions, shortening and deformation of the long bones and maldevelopment of the chest leading to severe respiratory failure and early death. The disease is caused usually by de novo mutation in the gene of fibroblast growth factor receptor 3 (FGFR3). Inheritance is autosomal dominant. The most common mutation C742T leads to substitution of arginine by cysteine in 248 position of polypeptide (R248C).
  
  
  OBJECTIVE
  Presentation of clinical picture, radiological findings and molecular diagnostics in three patients with TD hospitalized in PAIP in 1994-2000.
  
  
  METHODS
  Three patients with TD were hospitalized in PAIP between 1994 and 2000. They were admitted in the 1st, 2nd, 19th day of life. Two patients were referred with diagnosis of achondroplasia. One newborn was born after uncomplicated pregnancy with cesarean section due to large head circumference found on prenatal USG. Two other newborns were born preterm (34 week of gestation), vaginally. One pregnancy was complicated by polyhydramnios. All patients required oxygen therapy, two were artificially ventilated (21 and 16 days). Three newborns died due to respiratory failure, average length of life--29 days.
  
  
  RESULTS
  The diagnosis was established based on clinical presentation (abnormal proportions, shortening and deformation of the extremities, maldevelopment of the chest, large cranium) and radiological presentation (typical vertebral bodies, long bones shaped as telephone receiver). In two cases molecular analysis was performed, which excluded achondroplasia, in one of those patients molecular studies directly confirmed presence of the most common mutation leading to TD (R248C).
authors.affiliation: Zakład Genetyki Medycznej Katedry Pediatrii Wydziału Lekarskiego Uniwersytetu Jagiellońskiego, 30-663 Kraków, ul. Wielicka 265. kruczekpiotr@poczta.onet.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Kruczek
authors.forename: Piotr
authors.initials: P
authors.lastname: Kruczek
authors.forename: Zofia
authors.initials: Z
authors.lastname: Mitkowska
authors.forename: Jacek J
authors.initials: JJ
authors.lastname: Pietrzyk
mesh_terms: D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006760:Hospitalization; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics / Q000378:metabolism; D013796:Thanatophoric Dysplasia / Q000235:genetics* / Q000378:metabolism / Q000534:rehabilitation
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine