Open AccessThanatophoric Dwarfism
Author(s) -
Bækmark Ulla Britt,
Bliddal Bodil,
Lorentzen Martin
Publication year - 1984
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.3109/00016348409156706
Subject(s) - dwarfism , medicine , prenatal diagnosis , pediatrics , achondroplasia , genetic counseling , pregnancy , radiological weapon , gynecology , obstetrics , fetus , surgery , genetics , biology , gene
. Thanatophoric dwarfism was distinguished as a separate entity in 1967. A report is presented of the first case of thanatophoric dwarfism in Scandinavia. A literature survey is given of the clinical, radiological, ultrasonic and his‐tological findings. The mode of inheritance is still not known, but is presumed to be autosomal recessive and the imperic risk of recurrence is 1:50. There is no possibility of prenatal diagnosis, for eugenic reasons, but the condition can be detected by means of ultrasonic scanning and radiology around the 34th week of pregnancy. The value of diagnosis at this time is that the mother can be protected from excessive obstetrical procedures on fetal indications, as the condition always leads to the death of the infant.