Prenatal diagnosis of dyssegmental dwarfism.
Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.
D000328:Adult; D004392:Dwarfism / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography