Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.
Congenit Anom (Kyoto)
; 55(2): 116-20, 2015 May.
Article
in En
| MEDLINE
| ID: mdl-25385298
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Achondroplasia
/
Down Syndrome
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Newborn
/
Pregnancy
Language:
En
Journal:
Congenit Anom (Kyoto)
Journal subject:
TERATOLOGIA
Year:
2015
Document type:
Article
Affiliation country: