Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia.
We present a case of thanatophoric dysplasia diagnosed at the 21st week of gestation. Serial ultrasound was performed throughout pregnancy. The scans showed a distinctive pattern of development of the fetal long bones. Up to week 25, the fetal long bones appeared to grow steadily but slower compared to normal measurements (4-5 SD below the mean); then, between weeks 26 and 30, long bone growth was further and more severely hampered, until it almost stopped altogether approaching term, with measurements 9-12 SD below the mean at week 38.
Fieni
S
S
Department of Gynecology, Obstetrics and Neonatology, University of Parma, Italy.
Gramellini
D
D
Vadora
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E
D000328:Adult; D001946:Breech Presentation; D002585:Cesarean Section; D003937:Diagnosis, Differential; D005314:Embryonic and Fetal Development; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging*; D011262:Pregnancy Trimester, Second; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal