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2000-11-10-05 Answer to case of the week #38 © Heredia

Answer to case #38

November 10-24, 2000

Submitted by Fernando M. Heredia, MD1, V?ctor G. Quiroz, MD2, Eliana C. Selman, MD3, Carlos B. Henr?quez, MD1, Philipe L. Massoc, M.D1, Gregorio M. Evans, MD1.

Hospital Regional de Concepci?n “Guillermo Grant Benavente”, Concepci?n, Chile. (1: Obstetrics and Gynecology fellow; 2: Professor of Obstetrics and Gynecology; 3: Professor of Pediatrics and Genetics)

Departamento de Obstetricia y Ginecolog?a, Facultad de Medicina, Univeridad de Concepci?n, Chile.

A 18-year-old, G1P0, with an untreated hyperthyroidism and a history of poorly controlled rheumatic arthritis, was referred to our center at the 32nd week of gestation (with no prior ultrasound examinations), for a uterine height over the 95th percentile.

The mouth and ear. The first image shows the fetal mouth and nose. We noticed a thin upper lip in this image. Also the mouth looked a little bigger than normal. 


The brain: These images show an enlarged cisterna magna, and a severe hydrocephalus. The corpus callosum was not seen during the scanning. These images were compatible with a typical Dandy-Walker malformation complex (sorry, but our equipment is not as good as we would like).




The hands and feet. The left hand seems to represent a fist.

Right hand. We noticed a “hole” between the 4th and index fingers. This represented abnormally positioned fingers. 

Right foot: the insertion of the toes is anomalous. 

The abdomen and abdominal wall.  We actually did not realize what this central large cystic image was until delivery. On the right we see the fetal bladder and on the left we observe a fetal kidney. We primarily thought it was a dilated ureter, or maybe a dilated intestine.

These image demonstrate a big omphalocele, and a thin membrane that covers it. It contained only intestines. Also, (not shown) polyhydramnios was noticed with an amniotic fluid index of 24.


The cervical region (did not change during the examination). This is a sagittal view of the neck and upper dorsal spine. There appear to be some kyphosis and maybe redundant soft tissue over the cervical spine.

Newborn head scan, pretty much like a transvaginal exam... :) 



There were no signs of heart abnormalities, but we noticed a “high” diaphragm, with no hernia signs. The gender was feminine. We were convinced it was a trisomy 18, but the mother refused a prenatal karyotype. Since the risk of aneuploidy is small in an 18 year old (1:18,013 for trisomy 18 and 1:43,423 for trisomy 131 other non-chromosomal malformation syndromes were considered such as Smith-Lemli-Opitz and Fryns syndrome.

So, prenatally, the sonographic findings were:

  • Classical Dandy-Walker malformation.
  • Agenesis of corpus callosum.
  • Macrocephalia (BPD > 100mm).
  • Tetraventricular hydrocephalus.
  • Low set and apparently malformed ears.
  • Macrostomia.
  • Thin lips.
  • Apparently “flat” nose.
  • Micrognathia (not shown in the prenatal scan images provided).
  • Cervicothoracic kyphosis.
  • Redundant retronuchal soft tissue.
  • Lungs looked hypoplastic.
  • Heart and great vessels looked normal.
  • Huge omphalocele containing only intestines inside.
  • Intraabdominal cystic elongated structure (seen in all the scans performed to this patient), between the kidneys and the fetal bladder. As seen in the sagittal view provided we thought this image could correspond to a dilated intestine segment or a megaurether, but fetal kidneys were apparently normal.
  • Abnormal views of both hands (one clenched fist, and on the other one the finger’s insertion was abnormal or maybe was camptodactylic).
  • Both feet looked abnormal, with the same kind of anomaly seen in hands (image of absent toes, though not “sandal gap” appearance).
  • Both femurs were below 10th percentile for gestational age.
  • Normal, female gender.

Immediately after birth, a cord blood sample was taken for a karyotype and the girl was taken to neonatal ICU, and connected to Mechanical Ventilation due to moderate respiratory distress.

The full size little girl. Noticed the absence of nipples and a small thorax. As we could see on the ultrasound examination, the upper lip was mildly thin. Also the girl showed a “coarse” face, with mild hypertelorism, macrostomia, facial hirsutism (specially in the forehead), and a broad nasal bridge. The neonatal examination confirmed the prenatal findings and refined the following:

  • The ears had attached hypoplastic lobes with malformed helices. 
  • Facial hirsutism at the forehead, back of the ears and neck.
  • Absent nipples
  • Eventration of the diaphragm without diaphragmatic hernia
  • Small bowel atresia resulting in a distended proximal segment (the fluid collection seen prenatally) 
  • Left hand formed a rigid fist, and on the right hand there was camptodactyly of the middle digit, with a rigid position of all fingers. We also observed a bump in the back of the wrist. Both hands had hypoplastic nails.
  • Left foot was clubbed no digit anomalies and the right foot too had camptodactyly of second, fourth and fifth toe with mild clubbing. Bilateral hypoplastic nails.

The baby girl died four days later, and the necropsy was performed. 

The autopsy findings confirmed the previously mentioned findings and added the following:

  • Mild lung hypoplasia.
  • Normal heart and great vessels.
  • Thin tendinous diaphragm witn no defects.
  • Intestinal malrotation.
  • Hypoplastic ectopic spleen.
  • Bilateral mild megaureters and normal kidneys.
  • Double uterus.
  • Double vagina.
  • No ovarian tissue.

The karyotype was normal

With all the findings showed before, plus the normal karyotype and the findings of the necropsy, the genetics team in our center diagnosed Fryns syndrome..


1) Snijders RJM, Sebire NJ, Cuckle H, Nicolaides KH. Maternal age and gestational age-specific risks for chromosomal defects. Fetal Diag Ther 1995;10:356-357

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