Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

[achondroplasia]

Achondroplasia and Down syndrome are relatively common conditions individually . But co -occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three -dimensional (3 -D ) helical computed tomography (CT ). Prenatal sonographic findings seen in persons with Down syndrome , such as a thickened nuchal fold , cardiac defects , and echogenic bowel were not found in the patient . A prenatal 3 -D helical CT revealed a large head with frontal bossing , metaphyseal flaring of the long bones , and small iliac wings , which suggested achondroplasia . In a case with combination of achondroplasia and Down syndrome , it may be difficult to diagnose the co -occurrence prenatally without typical markers of Down syndrome .

Diseases
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Diseases presenting "which suggested achondroplasia" symptom

achondroplasia

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