Case of the Week # 31

Philippe Jeanty, MD, PhD Ghada Mahmoud Mansour, MD

August 4-18, 2000

Nashville, TN.and Cairo, Egypt

This baby was seen on 3 examinations. The first at 26 weeks one day, then again at 29 weeks 5 days and 36 weeks 5 days. The following images (head, lips and kidneys) were obtained at 26 weeks:

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The patient declined an amniocentesis. These are the images at 29 weeks

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and finally at 36 weeks, the kidneys

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a section through the upper arm and the head.

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a representative section of the amniotic fluid

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A Doppler examination of the cord

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This is the growth curve of the baby

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These are some of the growth measurements (the actual gestational age is under the date): 

 

October 7
(26 weeks 1 day)

November 1
(29 weeks 5 days)

December 20
(36 weeks 5 days)

Biparietal
diameter

58 mm = 23 weeks 6 days

69 mm = 27 weeks 4 days

85 mm = 34 weeks 2 days

Abdominal perimeter

191 mm = 23 weeks 6 days

220 mm = 26 weeks 3 days

278 mm = 31 weeks 6 days

Femur length

43 mm = 22 weeks 5 days

51 mm = 27 weeks 1 day    

58 mm = 30 weeks 4 days    

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Answer

This baby was seen on 3 examinations. The first at 26 weeks one day, then again at 29 weeks 5 days and 36 weeks 5 days. The following images (head, lips and kidneys) were obtained at 26 weeks:

The first examination demonstrated an normal brain, a mouth that is slightly "downturned" (the corner of the mouth are low as in a sad expression), and ....

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...most strikingly, very small kidneys. Note that what is visible of the amniotic fluid is unremarkable.

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The patient declined an amniocentesis. These are the images at 29 weeks, and again a normal brain, although slightly unusual configuration but with no definite anomaly. The chin also appears small suggesting micrognathia.

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and finally at 36 weeks, the kidneys are very small

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a section through the upper arm demonstrates ample soft-tissue. This is not a fetus suffering from malnutrition !

The head is again unremarkable.

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a representative section of the amniotic fluid demonstrates normal amounts of fluid.

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A Doppler examination of the cord demonstrates a normal flow/resistance pattern.

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This is the growth curve of the baby and it demonstrates a low growth profile.

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These are some of the growth measurements (the actual gestational age is under the date). The measurements are all small for gestational age.

 

October 7
(26 weeks 1 day)

November 1
(29 weeks 5 days)

December 20
(36 weeks 5 days)

Biparietal
diameter

58 mm = 23 weeks 6 days

69 mm = 27 weeks 4 days

85 mm = 34 weeks 2 days

Abdominal perimeter

191 mm = 23 weeks 6 days

220 mm = 26 weeks 3 days

278 mm = 31 weeks 6 days

Femur length

43 mm = 22 weeks 5 days

51 mm = 27 weeks 1 day    

58 mm = 30 weeks 4 days    

Findings

So the findings here are:

  • severe growth delay
  • normal Doppler flow
  • normal amniotic fluid
  • renal hypoplasia
  • unusual mouth, possibly "downturned"

This is a puzzling combination ! As Luis Guillermo Diaz Guerrero from Valencia wisely remarked: the association of severe growth delay in spite of normal Doppler flow and with normal amniotic fluid is very suggestive of a chromosomal anomaly. As in many difficult cases like that placing the correct keywords in OMIM can help. Using the combination: growth retardation renal hypoplasia mouth chromosome (note that for mouth and chromosome little specifications are provided in the search while renal hypoplasia is more restrictive then using "kidney" for instance. The first diagnosis suggested by OMIM is Wolf-Hirschhorn syndrome which is also called 4p- syndrome.

The mother of this child (her name is China) has written a nice "parent"s article" about China and it is well worth reading.

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