Publication: Ellis-van Creveld syndrome (chondro-ectodermal dysplasia) in two siblings
Date
2008
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
Abstract
Two male siblings aged 12 and 15 years (Fig 1) presented with growth retardation, limb abnormalities and, defective teeth
and nail since childhood. There was no history of similar defects in other family members. On examination their height
was 114cm and 130 cm (expected height; 169 cm and 150 cm) respectively. There were hypoplastic and dystrophic nails,
and microdontia and hypodontia on dental examination. There were post-axial polydactyly in both the hands and left
foot. Skeletal survey revealed short forearms, legs & distal phalanges (Acromesomelia). Cardiac or other organ system
defects were not noticed on clinical examination or echocardiogram. Clinical picture was suggestive of a diagnosis of
Chondroectodermal dysplasia (Ellis van Creveld syndrome). These cases have been reported for their rarity and for the
presence of some rare features of this syndrome.
Description
Shenoy MM 1, Gopa K2, Girisha BS1, Pinto J1, Shetty V 3
1 Department of Skin & VD, 3Department of Orthopaedics, K. S. Hegde Medical Academy, Mangalore, India; 2Department of Oral Medicine, AB Shetty Memorial Institute of Dental Sciences, Mangalore, India