It is typically diagnosed in childhood and may occur on its own or as part of the autosomal recessive 'Ellis van Creveld Syndrome
A rare case report of Ellis Van Creveld syndrome
in indian patient and literature review.
Wright et al., "The gene for Ellis van Creveld syndrome is located on chromosome 4p16," Genomics, vol.
Hirshman et al., "A new gene, EVC2, is mutated in Ellis van Creveld syndrome," Molecular Genetics and Metabolism, vol.
Analysis of Ellis van Creveld syndrome
gene products: Implications for cardiovascular development and disease.
Ellis van Creveld syndrome has been associated with cardiovascular malformation i.e.
Ellis van Creveld syndrome (EVCS) is an autosomal, recessive and rare (1: 40,000- 60,000) disorder characterized for congenital heart defects (50-60%) including artial atrioventricular defect with common atrium and polydactyly1.
Ellis Van Creveld syndrome
(chondroectodermal dysplasia),9 cyclopia, pachyonychia congenita, cleft lip and palate, Down's syndrome, Pierre-Robin, Pallister-Hall, short rib-polydactyly type II, Wiedeman-Rautenstrauch (neonatal progeria).10,5
ELLIS VAN CREVELD SYNDROME
: A boy of 14 years old presented with complaint of stunted growth on clinical examination the head was normal in size.
History: The presence of positive family history and short stature in other members of the family will suggest the presence of bone dysplasia, such as multiple epiphyseal dysplasia, multiple metaphyseal dysplasia, multiple enchondromatosis (Ollier's disease), multiple hereditary exostosis, Ellis Van Creveld syndrome
, or Morquio's disease .
After phys- ical examination and analysis of CT scan report the paediatrician suggested a provisional diagnosis of Ellis Van Creveld Syndrome
. However its definite diagnosis required ultrasound of abdomen and Echocardiogram.