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2000-04-14-05 Answer of case of the week #23 © Tawil

Answer to case #23

April 14-28, 2000

Submitted by Marcos Tawil, MD, Mexico, and Philippe Jeanty, Nashville TN

The mother is 27-year-old G3, P2. Her first baby is normal, but the second child died a couple of weeks after birth from complication of a birth defect with an autosomal recessive transmission. We present several images of a 14-week triplet (triamionic, trichorionic) pregnancy. Two of the fetuses are normal, but the third one had a very unusual position. All pictures are from the affected fetus.


The first image demonstrated some possible choroid plexus cyst

The second and third image, some nuchal lucency/fold

All the other images demonstrated limb segments that were in unusual/abnormal position. In particular the hands were clubbed, fingers were overlapping, the feet in extreme dorsiflexion.

The right arm, wrist and hand

The left arm, wrist and hand


Both femurs

The right leg, ankle and foot

The left leg, ankle and foot

The   video-clip (1.8 MB) demonstrated limited motion of the limbs with preservation of some motion of the proximal limb and loss of distal motion (stiffer distal joins then proximal joints). It was also known that the mother had a previously affected child.


The combination choroid plexus cyst, nuchal lucency/fold and limb anomalies is, of course, very suggestive of trisomy 18[i],[ii], but the fact that a previous child had been affected made this an unlikely diagnosis.

Therefore the main abnormal findings are the unusual position, and the flexion contractions at the wrists and feet. While two of the sibling where moving normally, this third one was quietly lying in an “unusual” manner, so we have to consider “fetal akinesia”

The differential diagnosis of lack of fetal movements or abnormal fetal movement is large[iii], but the most common ones are

  • arthrogryposis, 
  • multiple pterygium syndrome, or  a 
  • “fetal akinesia deformation sequence” like Pena Shokeir syndrome

Arthrogryposis is a sequence that involves neurologic, muscular and connective tissue disorders. The affected fetuses show limitation of joint mobility, joint contractures and rigidity. The ultrasound detectable abnormalities include: fixed extremities, flexed arms, clubbed feet, clenched hands, fetal immobility, etc[iv].

Multiple pterygium syndrome is also a likely differential diagnosis that many of you suggested. This condition is characterized by multiple contractures and webbing of the skin across the joints. Decreased intrauterine movement in the early gestation can be one of the causes of the abnormalities in joints and the webbing (pterygium) can be caused by problems in connective tissue, collagen and muscle development[v]. The webbing however is difficult to demonstrate this early in the pregnancy. This syndrome can include: cystic hygroma, jugular lymphatic obstruction sequence, dysmorphic facies, epicanthal folds, flat nose, low-set ears, hypertelorism, micrognathia, cleft lip/palate, cleft palate, hypoplastic heart,  hypoplastic lungs, polyhydramnios.

Pena and Shokeir described a syndrome (inherited) characterized by “arthrogryposis” and dysmorphic features resulting from fetal akinesia[vi]. Several authors like Moessinger[vii] and Hall[viii] object that the phenotype is not specific but rather a result of a deformation sequence caused by the akinesia.

While Hall puts an empiric risk of recurrence at about 10 to 15% the autosomal recessive pattern of transmission and the multi-factorial etiology suggests a greater recurrence risk of 25%[ix].

In the mid first trimester when active fetal movements normally begin, absent or reduce movements affect the development of the joints and contiguous tissues. The ultrasound features are related to the “lack of movement” and they include:

  • limb abnormalities (multiple contractures, clenched hands, clubbed feet),
  • pterygia (that can develop later in the pregnancy),
  • reduced or absent response to acoustic stimulation,
  • scalp edema,
  • growth retardation,
  • polyhydramnios
  • pulmonary hypoplasia
  • low set malformed ears,
  • hypertelorism,
  • short neck,
  • cleft palate,
  • thoracic deformities,
  • camptodactyly,
  • micrognatia[x],[xi]

These features are very similar to those of arthrogryposis, and the differential diagnosis can be difficult and even impossible. Sometimes the only clue is the existence of a previous affected child.

As mentioned earlier, this patient had a previous affected child that was diagnosed with the Pena-Shokeir syndrome after birth, this led us to look for the phenotype as early as the 14 week, as reported by Ajayi RA[xii] and confirm that this fetus also had  Pena-Shokeir syndrome.


[i] Jackson S, Porter H, Vyas S. Trisomy 18: First trimester nuchal translucency with pathological correlation. Ultrasound Obstet Gynecol 5:55-56, 1998

[ii] Benacerraf B, Miller W, Frigoletto F. Sonographic detection of fetuses with trisomies 13 an 18: Accuracy and limitations. Am J Obstet Gynecol 158:404-409, 1998

[iii] Benacerraf B. Ultrasound of Fetal Syndromes. 1st Edition Churchill Livingston 152-154

[iv] Bendon R, Dignan P, Siddiqi T. Prenatal diagnosis of arthrogryposis multiplex congenita. J Pediatr 111(6):942-947, 1987

[v] Benacerraf B. Ultrasound of Fetal Syndromes. 1st Edition Churchill Livingston 152-154

[vi] Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankyloses facial anomalies and pulmonary hypoplasia: a lethal condition. J. Pediatr. 1974, 85:373-375

[vii] Moessinger, A. C. : Fetal akinesia deformation sequence: an animal model. Pediatrics 72: 857-863, 1983.

[viii] Hall, J. G. : Analysis of Pena-Shokeir phenotype. Am. J. Med. Genet. 25: 99-117, 1986.

[ix] KL Jones. Pena-Shokeir phenotype in Smith’s recognizable patterns of human malformation. WB Saunders Company – Philadelphia 1997, 174-175.

[x] Muller L.M. de Jong Greetje. Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. Am J. Med. Gen. 1986, 25:119-129.

[xi] Ohlsson A, Fong K.W, Rose T.H, Moore D.C. Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. Am. J. Med. Gen. 1988, 29: 59-65

[xii] Ajayi R.A, Keen C.E, Knott P.D. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat. Diagn. 1995, 15: 762-764.

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