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  • Title: [Thanatophoric dwarfism].
    Author: Frahm R.
    Journal: Radiologe; 1986 Dec; 26(12):598-601. PubMed ID: 3823421.
    Abstract:
    The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis.
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