[Thanatophoric dwarfism - prenatal diagnosis of a fatal form of osteochondrodysplasia using ultrasound].
The report presents the ultrasonographic diagnosis of thanatophoric dwarfism in the 33rd week of pregnancy. This congenital osteochondrodysplasia is characterized by a relatively large head, a narrow thorax, a protuberant abdomen and micromelic limbs, and hydramnios is often present. The early diagnosis of this lethal malformation allows the obstetrician to decide on the appropriate way of delivery.
D001848:Bone Diseases, Developmental / Q000151:congenital / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
Der thanatophore Zwergwuchs - pränatale Diagnostik einer letalen Osteochondrodysplasieform mittels Ultraschall.