title: [Genetically-determined familial recurrent thanatophoric dysplasia].
abstract: Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.
authors.affiliation: Oddział Ginekologii, Połoznictwa i Patologii Ciqzy Wielospecjalistycznego Szpitala Miejskiego im. E. Warmińskiego w Bydgoszczy.
authors.forename: Anna
authors.initials: A
authors.lastname: Lauda-Swieciak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Moszczyńska
authors.forename: Jacek
authors.initials: J
authors.lastname: Skórczewski
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Ludwikowski
authors.forename: Jarosław
authors.initials: J
authors.lastname: Szułczyński
authors.forename: Andrzej
authors.initials: A
authors.lastname: Tretyn
authors.forename: Mariusz
authors.initials: M
authors.lastname: Dubiel
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics*; D016216:Ultrasonography, Prenatal