[Prenatal diagnosis of thanatophoric dwarfism with cloverleaf skull].
Thanatophoric dwarfism is a rare condition occurring in 1 in 100,000 births. To date, only 2 cases have been reported on in which this condition was diagnosed prenatally before the 24th week of pregnancy post menstruationem. The majority of cases reported so far were born by cesarean section. This condition can be diagnosed early by measurement of the fetal diaphyseal bones and accompanying specific diagnostic measures to establish the possible presence of malformations. The pregnancy can then be terminated if need be, and unnecessary interventions thus avoided.
D000025:Abortion, Eugenic; D000328:Adult; D003398:Craniosynostoses / Q000175:diagnosis*; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D013796:Thanatophoric Dysplasia / Q000175:diagnosis*; D014463:Ultrasonography
Pränatale Diagnose eines thanatophoren Zwergwuchses mit Kleeblattschädel.