Ellis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings.
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Date
2008-04-05
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Abstract
Two male siblings aged 12 and 15 years (Figure 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 114 cm 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.
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Kathmandu University Medical Journal.
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Shenoy MM, Gopa K, Girisha BS, Pinto J, Shetty V. Ellis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings. Kathmandu University Medical Journal. 2008 Apr-Jun; 6(2): 220-2