CASE 312: A Case of PENA-SHOKEIR PHENOTYPE: FETAL BODY HYPEREXTENSION, Dr PHAN THANH HẢI, Dr JASMINE THANH XUÂN, Dr ĐẶNG VĨNH PHÚC, Dr TÔ MAI XUÂN HỒNG

Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena–Shokeir phenotype Xuan-Hong Tomai, Thanh-Xuan Jasmine, Thanh-Hai Phan

case-312-fetus-hyperextension

Female 33yo with cutaneous allergy from age of 20, now in 3^rd pregnancy. 2 first girls are normal and no abnormal family history. She has been treated  allergy while was  in 12 weeks of gestation [medrol, cefixin, antihistamine) for one month and changing to Prednisone pommade.

She was recorded the 3rd pregnancy with 2 OB ultrasound examinations at 12 weeks and 18 weeks: Fetus with normal attitude, heart rate 158b/min, nuchal translucency NT=1.1mm,  normal fetal vertebral column.

But  the 3^rd OB ultrasound examination, in 23th week, detected a  micrognathia, abnormal  curved attitude of vertebral column, hyperextension,  which appeared in days of follow-up. 2 small lungs in small thorax, a few movements of 2 upper and lower limbs and fingers in extension time by time in uterus.  But other viscera  of fetus were normal.

MRI detected loss of septum pellucidum.

The parturient was sent to HV hospital for a prenatal care, and  an amniotic fluid analysis was done . FISH test showed no abnormal chromosome of 13th, 18th, 21th , X and Y,  and karyotype result in 4 weeks next. In one week follow-up in hospital, with many sonologists, fetal  attitude no change which made thorax  more compressed, small stomach and polyhydramnios due to fetus cannot swallow.

Because of  nothing change for one week,  the poor pregnancy had to be end.

DISCUSSION

Fetus in 23 weeks with malformation= abnormal hyperextention of vertebral column and four limbs and micrognathia, no septum pellucidum.  FISH test showed normal  13, 18, 21, X , Y chromosomes. (Double test and Triple test  not yet performed).

In birth, micrognathia, fingers in gripping, curved vertebral column looked like abnormal 18^th chromosome.

Few in literature of abnormal curved vertebral column of fetus, there were 2 papers but the vertebral column changes normal at birth without malformation, and babies remain well.