Early prenatal diagnosis of diastrophic dwarfism by ultrasound.
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Several forms of dwiirfism are hereditary. One such is diastrophic dwarfism, which is inherited as an autosomal recessive. There is a need for early prenatal diagnosis of these conditions, but no satisfactory method has been available until now. We describe a patient in whom ultrasonic measurements of fetal limb length were compared with normal values.' Occasionally, as in this case, fetoscopy may be used to confirm the diagnosis.
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[2] C. Rodeck,et al. EARLY PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS BY ULTRASOUND-GUIDED FETOSCOPY , 1978, The Lancet.