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Articles » Syndromes » Ellis-van Creveld syndrome

2004-11-09-12 Ellis-van Creveld syndrome ©Cuillier

Ellis-van Creveld syndrome

Fabrice Cuillier, MD

Department of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. 

Case report:

This is a 24-week fetus with a non-lethal type of Ellis Van Creveld syndrome, who was diagnosed prenatally from the US detection of a postaxial polydactyly of the hands and the feet, short acro-mesomelic limbs without narrow chest and without cardiac defect.

A 34-year-old healthy woman, G2P1, was presented at 24 weeks for ultrasound examination. Their family and medical histories were unremarkable, except that the parents had a consanguineous relationship. The first trimester had been unremarkable; however the triple test and nuchal translucency were not performed. 

The current sonographic findings revealed a fetus with a biparietal diameter consistent with 24 week’s menstrual age. The lengths of the humerus, radius, femur and tibia were nearly two standard deviations below the normal mean values. The thoracic diameter at the level of the four-chamber view was in the normal range.

Image 1, 2: Sagittal and coronal views showing a normal thoracic relative to the size of the abdomen and head.

Image 3, 4 , 5: Postaxial polydactyly with the extra-digits each containing two small bony phalanges was visualized in both hands and feet.

Image 6
: Mild pyelectasis

Image 7, 8: Profile face

The fetus displayed short limbs and hexadactyly without cardiac anomaly, as well as dilatation of the kidney. All bony structures were of normal echogenicity. The spine was unremarkable. No phenotypic signs consistent with chondro-ectodermal dysplasia were seen. The volume of amniotic fluid was normal. The placenta was of normal appearance and was located at the posterior uterine wall. Chromosome analysis showed a numerically and structurally normal karyotype. According to the ultrasound findings and because of the presence of polydactyly, short rib polydactyly syndrome and Ellis-van Creveld syndrome was suspected, despite the absence of congenital heart disease. The couple decided to continue the pregnancy.

Spontaneous labor at 37 weeks led to the vaginal delivery of 2.5 kg male infant, with a normal thorax and shortened limbs, polydactyly and hypoplastic nails in the extremities. The baby had an anteverted nose with a flat nasal bridge and examination of the mouth revealed a broadly attached frenulum. Fingernails were inconspicuous.

The postnatal radiograph features of the skeleton confirmed the diagnosis. The X-ray babygram showed a cylindrical chest with normal ribs. The spine appeared normal. Radiologically, the hand showed postaxial hexadactyly and hypoplasia of the terminal phalanges bilaterally. All long bones were markedly shortened, especially the humerus and the femur. There was trident configuration over the acetabulum.

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