Ellis-van Creveld Syndrome Workup

Updated: Apr 21, 2015
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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Workup

Laboratory Studies

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  • Sequencing of EVC and EVC2 identified mutations in two thirds of patients with Ellis-van Creveld (EVC) syndrome. [1]
  • Gene testing for mutational analysis of EVC and EVC2 is available clinically by sequence analysis of the entire coding region, deletion/duplication analysis, and linkage analysis (for up-to-date information on gene testing, see Gene Tests).
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Imaging Studies

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  • A skeletal survey is necessary to define skeletal anomalies. Expected findings include the following:
    • Acromesomelia (relative shortening of the distal and middle segment of the limbs) - Most prominent in the hands, where the distal and middle phalanges are shorter than the proximal phalanx
    • Polydactyly (ulnar side)
    • Multiple varieties of carpal fusion
    • Small iliac crests and sciatic notches (may be revealed on pelvic radiographs)
    • Valgus deformity of the knee [20]
    • Fibula disproportionately smaller than the tibia
    • Thorax (short ribs, narrow)
    • Retarded bone maturation
    • Other findings - Fusion of the hamate and capitate bones of the wrist, cubitus valgus, hypoplastic cubitus, supernumerary carpal bone center, clinodactyly of the 5th finger
  • Chest radiography, ECG, and echocardiography (to evaluate cardiac anatomy) are indicated.
  • Head MRI may infrequently reveal brain anomalies.
  • Renal ultrasonography may infrequently reveal renal anomalies.
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Other Tests

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  • Consider eye examination to exclude eye anomalies, which have been infrequently described.
  • Using 235 observations of 101 patients with Ellis–van Creveld syndrome (49 males, 52 females), Verbeek et al developed growth charts for males and females aged 0-20 years. [21] The growth charts should be useful in the follow-up of patients with Ellis–van Creveld syndrome. Most importantly, early detection of growth hormone deficiency, known to occur in Ellis–van Creveld syndrome, can be facilitated. The charts, shown below, reveal that 98% of patients with Ellis–van Creveld syndrome will exhibit lower height by age 10 years, compared with unaffected children.
    Dutch growth charts for girls and boys. Adapted fr Dutch growth charts for girls and boys. Adapted from Verbeek S, Eilers P, Lawrence K, Hennekam R, Versteegh F. Growth charts for children with Ellis–van Creveld syndrome. European J of Pediatrics. Feb 2011;170(2);207-277.
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Histologic Findings

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  • Disorganization of chondrocytes in the physeal growth zone of the long bones and vertebrae in the prenatal period and retardation of physeal growth zones in childhood
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