[Genetically-determined familial recurrent thanatophoric dysplasia].
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.
Lauda-Swieciak
Anna
A
Oddział Ginekologii, Połoznictwa i Patologii Ciqzy Wielospecjalistycznego Szpitala Miejskiego im. E. Warmińskiego w Bydgoszczy.
Moszczyńska
Katarzyna
K
Skórczewski
Jacek
J
Ludwikowski
Grzegorz
G
Szułczyński
Jarosław
J
Tretyn
Andrzej
A
Dubiel
Mariusz
M
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