Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks

Abstract

We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.

Histopathology of fetal diastrophic dysplasia

“…While this typical clinicopathologic picture of DD is usually easy to diagnose in the infant or young child, it is more difficult to diagnose in a second trimester fetus, since many of the above abnormalities may not have developed. However, recently the diagnosis of DD in the fetus in utero is being made with increasing frequency by ultrasonography [OBrien et al, 1980;Mantagos et al, 1981;Gollop and Eigier, 1987;Gembruch et al, 19881. None of these previous studies has included histopathological examination of the cartilage.…”

Diastrophic Dysplasia : A Case Report

“…7 Antenatal diagnosis can be offered for the next pregnancy through ultrasound screening of fetus for abnormal thumb and short limbs. 15 In this report neither the parents has consanguinity nor there is history of DTD in their families. This indicates that the case may be a representative from 5% case of DTD who are due to sporadic new mutation.…”

“…Lifespan and intelligence is normal in this condition. 15 The disorder may be associated with neurologic, auditory, visual, pulmonary, cardiac, renal, and psychological complications. 16 Differentiation of DTD from similar forms of dwarfism, especially achondroplasia, is important because of greater morbidity, greater difficulty in case management and poorer reproductive prognosis for parents in cases of DTD.…”

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity

“…A definitive third-trimester prenatal ultrasound diagnosis has also been previously published (Gembruch et al, 1988). To our knowledge, a specific diagnosis of diastrophic dysplasia during the second trimester has been obtained by ultrasound alone only in cases with a recurrence risk (Mantagos et al, 1981;Hobbins et al, 1982;Kaitila et al, 1983;Gollop and Eigier, 1987).…”