Ultrasound evaluation of the hips and histological correlations in Ellis van Creveld Syndrome

Nicola M A Portinaro, R. M. Polo, F. Pelillo, M. F. Gargan

Research output: Contribution to journalArticlepeer-review


Ellis van Creveld Syndrome (EVCs) is a chondroectodermal dysplasia. Its clinical picture includes a meso-acromielic limb dwarfism with normal spine, involvement of the teeth, hair and nails, polydactyly of the hands and feet and heart malformations. Ultrasonography compared with histology were used in the present study to evaluate neonatal ultrasonographic hip development and acetabular hysto-morphology in EVCs. A flat and abnormal acetabulum with small beta angles and non measurable alfa angles were detected at repeated ultrasonographic evaluations at birth and at four months, with irregular echoes spiking from the inner part of the sockets; the acetabular cavities contained large early ossified proximal femoral epiphyses. Histology was obtained from phalangeal growth plates of a surgically removed extradigit, stained with alcian blue/PAS and E.E.. The growth plates showed a distorted anatomy with irregular column formation and abnormal distribution of the hypetrophic cells. Ultrasound morphology corresponded to the altered growth plates seen at histology. Early detection of an abnormally early developed proximal femoral ossification centre could be considered a diagnostic feature of the syndrome especially when present in the prenatal period.

Original languageEnglish
Pages (from-to)39-43
Number of pages5
JournalHIP International
Issue number1
Publication statusPublished - Jan 2004


  • Chondroectodermal dysplasia
  • Ellis van Creveld Syndrome (EVCs)
  • Histology
  • Ultrasonography

ASJC Scopus subject areas

  • Surgery


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