Chondroectodermal dysplasia [Ellis-Van Creveld syndrome]: report of two siblings and review of the literature

ABSTRACT

Two cases of chondroectodermal dysplasia are presented. The patients are two siblings, a boy and a girl aged 9 and 7.5 years respectively, product of unaffected first cousin parents. They exhibited the typical clinical features of the syndrome chondrodysplasia of long bones resulting in disproportionate dwarfism, polydactyly and syndactyly of the hands and feet, severe dystrophy and hypoplastic nails, multiple broad and highly attached labial frenula, congenital missing incisors, tooth abnormalities, and malocclusion. Other manifestations noted in either cases are congenital heart malformation, median notch of the upper lip, early eruption of teeth, double teeth, shovel-shaped incisors, and taurodontism. Of the unnusual dental findings observed in our patients are talon cusp, microdontia and early eruption of teeth. Prophylactic antibiotic coverage is necessary for patients with congenital heart defect who undergo dental treatment. Dentist may play an important role in early diagnosis and control of dental problems of this condition