Abstract
Ellis–van Creveld syndrome (EVC) comprises the combination of short stature, postaxial polydactyly, abnormal dentition, and cardiac defects. The short stature is of prenatal onset and is disproportionate, with progressive acromesomelic shortening of the limbs. The nails are hypoplastic. Radiologically there is postaxial polydactyly with or without fusion of the metacarpals/phalanges. The tubular bones are short and show distalward shortening with short and broad middle phalanges as well as hypoplastic distal phalanges. Also seen are cone-shaped epiphyses of the middle and distal phalanges; fusion of the capitate and hamate bones and extra carpal bones; a narrow thorax with short, poorly developed ribs; hypoplasia of the upper lateral tibia with knock-knee; and dysplasia of the pelvis with low iliac wings and spurlike downward projections at the medial and lateral aspects of the acetabulae. Several abnormalities of the teeth and mouth may be present, including a short upper lip connected by multiple frenulae to the alveolar ridge, neonatal teeth, partial anodontia, enamel hypoplasia, and malocclusion. Cardiac defects are found in up to 50 % of patients, predominantly atrial septal defects and single atrium. Intellectual disability, renal anomalies, fine hair, cryptorchidism, epispadias.
References
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Mundlos, S., Horn, D. (2014). Ellis–Van Creveld Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_11
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DOI: https://doi.org/10.1007/978-3-540-95928-1_11
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