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2007-04-19-11 Answer to the case of the week #199 © Jeanty

Answer to the case of the week #199

August 9-23, 2007

Breck Collins, MD1, Philippe JeantyMD, PhD2; Ian and Kristi Hay;

1Tennessee Maternal Fetal Medicine PLC, 2Inner Vision Women"s Ultrasound, Nashville, Tennessee, USA.


This is a second trimester fetus with several finding related to an atypical expression of a Beckwith-Wiedemann syndrome. The neonate was born prematurely at 31st week of pregnancy and died four days after delivery. Note that this baby lacked the usual omphalocele, but had pronounced hypertrophy.

Images 1 and 2: Second trimester 2D ultrasound. Image 1 shows transverse section of the abdomen at the level of enlarged kidneys. Image 2 shows a transverse section of the abdomen at the level of stomach - normal appearance (abdominal circumference was above the normal range).


Images 3 and 4: Second trimester 2D ultrasound images showing transverse section of the abdomen at the level of umbilical attachment with no signs of omphalocele (which is atypical in Beckwith-Wiedemann syndrome).


Images 5 and 6: Second trimester 2D ultrasound images. Image 5 shows sagittal thoracoabdominal section with prominent abdomen due to hepatomegaly. Image 6 shows transverse section of the thorax at the level of four chamber view (not clearly visible) showing cardiomegaly (postnatally a small ventricular and atrial septal defects were found in pathological study).


Images 7 and 8: Second trimester 2D and 3D ultrasound images of fetal legs - their appearance at 3D the image gives the impression of larger feet and the biometric parameters were increased.


Images 9 and 10: Second trimester 2D and 3D ultrasound images. Image 9 shows fetal facial profile with macroglossia. Image 10 shows fetal face.


Images 11 and 12: Image 11 - thirty week"s fetal estimated weight above the normal range. Image 12 - 3D ultrasound appearance of the fetal ear with small earlobe groove (fairly typical finding in Beckwith-Wiedemann syndrome).


Images 13, 14: Postnatal appearance of the baby.


Images 15, 16: Postnatal appearance of the baby.




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