MEDizzy
MEDizzy
Dr.Abhinaya
Dr.Abhinaya9 days ago
Ellis van creveld syndrome aka chondroectodermal dysplasia

Ellis van creveld syndrome aka chondroectodermal dysplasia

It is a autosomal recessive condition. EVC gene mutation in chromosome 4 short arm Features : Short limb drawfism Short stature due to metaphyseal dysplasia polydactyly , dysplastic nails and teeth Short ribs and cleft palate Heart abnormalities: M/c : ASD ostium primum Coarctation of aorta Hypoplastic left heart Patent ductus arteriosus

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