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.