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2010-03-03-16 Answer to the case the week #263 © Julien www.TheFetus.net


Answer to the case of the week #263

March 4, 2010 - March 18, 2010

Emmanuel Julien, MD., Philippe Juhel, MD. 

Centre hospitalier Le Mans, France. 

 

The following images represent an interesting case of Ellis-van Creveld syndrome.

 

Case report

 

A 23-year-old G1P0 was referred to our hospital for the ultrasound scan at 22 weeks of her pregnancy.
The first trimester scan and biochemistry were normal. During our ultrasound examination we have found the following findings:

 

    • micromelia,
    • long bones measured below 1st percentile;
    • postaxial polydactyly on both foot and one hand was seen;
    • narrow chest;
    • heart anomaly,
    • common atrium;
    • moderate nephromegaly.

 

The head (BPD, HC) and abdomen (AC) measured within the normal range for 22 weeks.

 

The subsequent ultrasound was done within 5 weeks; there was no growth of the long bones since the last exam. Our differential diagnosis included Ellis-van Creveld syndrome. The parents opted for pregnancy termination at 28 weeks. The fetal weight was 1100 grams and it measured 40 cm; femur length corresponded with 23 weeks.


The pathologist confirmed our diagnosis of Ellis-van Creveld syndrome. The fetopathologist reported facial dysmorphism with depressed nasal bridge and notch of the superior gum. He described narrow chest and postaxial hexadactyly; heart defect, common atrium, but no anomaly of great vessels; bilateral renal hypertrophy. The skeletal anomaly included: horizontal short ribs, square iliac wings with internal spurs, irregular curvature of calcanei.

 

Images 1,2: Image 1 shows a fetal profile; Image 2 shows a common atrium.

 

 

 

Image 3,4: Images show a Color Doppler flow between right and left atrium due to an absent interatrial septum.

 

 

 

Images 5,6: Image 5 show a sagittal view of the chest and abdomen, note the markedly narrowed thorax; Image 6 presents a postaxial hexadactyly of the hand.

 

 

 

Image 7,8: Images present a hexadactyly of both feet.

 

 

 

Images 9,10: Images present both humeri at 27 weeks measuring less than 1st percentile.

 

 

 

Images 11,12: Images present both femur at 27 weeks, both are markedly shortened, less than 1st percentile.

 

 

 

Images 12,13: Image 12 presents a fetus at 28 weeks (EFW=1100 grams, 40 cm), note the narrow thorax, pectus carinatum, postaxial hexadactyly on all extremities; Image 13 shows a fetal face with depressed nasal bridge and facial dysmorphism.

 

 

 

Image 14: Image shows a postaxial hexadactyly, pectus carinatum and dysmorphic face.

 

 

 

 

General information


Ellis-van Creveld syndrome is a rare skeletal dysplasia which belongs to a "Short-rib dysplasia group". It also called Chondroectodermal dysplasia, it an autosomal recessive disease with several allelic variants. The mutation of the gene EVC and EVC2 causing this disease is located on the short arm of chromosome 4.

 

Prevalence: 1:60,000-200,000, more common among Amish community.


The major anomalies

Short-limb dwarfism (adult measure 100-150 cm)
Narrow chest (pectus carinatum), short ribs
Postaxial polydactyly (both hand and feet)
Dysplastic nails and teeth
Cardiac malformations, 60% of malformations is common atrium

The prenatal diagnosis is possible and is based on the above findings. There may be an increase nuchal translucency associated with the disease at the 1st trimester screening.

 

Prognosis


Postnatal management mainly includes treatment of the respiratory distress due to narrow chest and heart failure due to the heart anomalies. Prognosis varies and depends on the severity of the respiratory difficulties and heart defect.

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