Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.
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.
Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.
Akimune
A
Kaga
Jun
J
Murotsuki
Miki
M
Kamimura
Masato
M
Kimura
Akiko
A
Saito-Hakoda
Junko
J
Kanno
Kazuhiko
K
Hoshi
Shigeo
S
Kure
Ikuma
I
Fujiwara
D000130:Achondroplasia / Q000150:complications* / Q000175:diagnosis*; D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D047109:Fetal Development; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D036542:Tomography, Spiral Computed; D016216:Ultrasonography, Prenatal
Down syndrome; achondroplasia; fibroblast growth factor receptor 3; prenatal 3-D helical computed tomographic analysis; prenatal sonographic analysis