[Prenatal diagnosis of thanatophoric dysplasia].
The authors report a case of a thanatophoric dysplasia associated with hydramnios diagnosed at 32 weeks' gestation by sonographic investigation. The final diagnosis was derived from radiological and hystological findings. The authors underline that the identification of a specific osteochondrodysplasia is quite difficult and postulates interdisciplinary cooperation between gynecologists, neonatologists, radiologists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.
Szatmáry
F P
FP
Gróf Esterházy Kórház-Szakambulancia, Szülészet-Nögyógyászati Osztály, Pápa.
Szabó
L
L
Tóth
T
T
Kristóf
A
A
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D006831:Polyhydramnios / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013796:Thanatophoric Dysplasia / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal
Praenatalisan kórismézett thanatophor dysplasia.